Deficiency diseases. Medical search. Web

Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.

A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

An inherited metabolic disorder characterized by the intralysosomal accumulation of sulfur-containing lipids (sulfatides) and MUCOPOLYSACCHARIDES. Excess levels of both substrates are present in urine. This is a disorder of multiple sulfatase (arylsulfatases A, B, and C) deficiency which is caused by the mutation of sulfatase-modifying factor-1. Neurological deterioration is rapid.

An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)

An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.

A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed)

An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50)

A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.

A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)

A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)

A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)

A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.

A nutritional condition produced by a deficiency of THIAMINE in the diet, characterized by anorexia, irritability, and weight loss. Later, patients experience weakness, peripheral neuropathy, headache, and tachycardia. In addition to being caused by a poor diet, thiamine deficiency in the United States most commonly occurs as a result of alcoholism, since ethanol interferes with thiamine absorption. In countries relying on polished rice as a dietary staple, BERIBERI prevalence is very high. (From Cecil Textbook of Medicine, 19th ed, p1171)

A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.

A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936)

Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.

A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)

A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)

Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.

An absence or deficiency in PROTEIN C which leads to impaired regulation of blood coagulation. It is associated with an increased risk of severe or premature thrombosis. (Stedman's Med. Dict., 26th ed.)

A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G.

A nutritional condition produced by a deficiency of VITAMIN B 6 in the diet, characterized by dermatitis, glossitis, cheilosis, and stomatitis. Marked deficiency causes irritability, weakness, depression, dizziness, peripheral neuropathy, and seizures. In infants and children typical manifestations are diarrhea, anemia, and seizures. Deficiency can be caused by certain medications, such as isoniazid.

A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)

A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.

A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)

Perspectives from micronutrient malnutrition elimination/eradication programmes. (1/430)

Micronutrient malnutrition cannot be eradicated, but the elimination and control of iron, vitamin A and iodine deficiencies and their health-related consequences as public health problems are currently the targets of global programmes. Remarkable progress is occurring in the control of goitre and xerophthalmia, but iron-deficiency anaemia (IDA) has been less responsive to prevention and control efforts. Subclinical consequences of micronutrient deficiencies, i.e. "hidden hunger", include compromised immune functions that increase the risk of morbidity and mortality, impaired cognitive development and growth, and reduced reproductive and work capacity and performance. The implications are obvious for human health and national and global economic and social development. Mixes of affordable interventions are available which, when appropriately adapted to resource availability and context, are proven to be effective. These include both food-based interventions, particularly fortification programmes, such as salt iodization, and use of concentrated micronutrient supplements. A mix of accompanying programmes for infection control, community participation, including education, communication and information exchange, and private sector involvement are lessons learned for overcoming deterrents and sustaining progress towards elimination. (+info)

Candidate noninfectious disease conditions. (2/430)

Important micronutrient deficiencies in at-risk populations can be addressed simultaneously with programmatically cost-effective results. Because of the interaction between many micronutrients, this would also be biologically effective. With adequate investment and political support, the chances of eliminating iodine deficiency as a problem in women of reproductive age and young children and of eliminating vitamin A deficiency as a problem in young children in the future are high. To eliminate iron deficiency and folic-acid-dependent neural tube defects (FADNTDs) in low-income populations, a new set of approaches will have to be developed. These same approaches, if successful, could be used to tackle other important micronutrient deficiencies. (+info)

Nitric oxide synthase inhibitor attenuates intestinal damage induced by zinc deficiency in rats. (3/430)

A nitric oxide synthase (NOS) inhibitor, NG-nitro-L -arginine methyl ester (L-NAME), was given to zinc-deficient (ZD) rats to determine whether it prevents the intestinal damage usually observed under these conditions. Weanling male rats were given free access to a ZD diet (2 mg zinc/kg), whereas control rats including pair-fed (PF) and ad libitum consumption (AL) groups were given a zinc-supplemented (50.8 mg zinc/kg) diet for 4 wk. Half of the ZD rats received L-NAME (0.3 g/L in drinking water) for 3 wk starting at the wk 2 of the deficient period. Plasma zinc concentration in ZD rats was significantly lower (P < 0.05) than that of AL and PF rats. Administration of L-NAME did not alter this concentration. Intestinal zinc concentration did not differ among groups. However, metallothionein-1 (MT-1) mRNA level was significantly lower in the intestine of ZD rats than in AL or PF rats. Treatment of ZD rats with L-NAME did not affect this level. Intestinal microvascular permeability evaluated by Evans blue showed significantly higher extravasation in ZD rats than in AL rats, whereas L-NAME administration inhibited the extravasation. Expression of inducible NOS mRNA was observed in intestine of ZD but not of AL or PF rats, and there was no significant difference between ZD rats, regardless of L-NAME treatment. The activity ratio of inducible NOS to total NOS in ZD rats not receiving L-NAME was significantly higher than that in AL rats or ZD rats treated with L-NAME (P < 0.05). The number of apoptotic-positive and goblet cells in intestinal villi was significantly higher in ZD rats compared with AL or PF rats. L-NAME administration in ZD rats reversed this effect. These results indicate that inhibition of NOS ameliorates zinc deficiency-induced intestinal damage in rats. (+info)

Decreased plasma membrane thiol concentration is associated with increased osmotic fragility of erythrocytes in zinc-deficient rats. (4/430)

Zinc deficiency leads to pathological signs that are related to impaired function of plasma membrane proteins. The purpose of this study was to assess the effect of dietary zinc status on the sulfhydryl (SH) content of erythrocyte plasma membranes and erythrocyte function. Three experiments were performed. In the first, immature male rats were fed for 21 d either a low-zinc (<1.0 mg/kg) diet free choice (-ZnAL), an adequate-zinc (100 mg/kg) diet free choice (+ZnAL), or the adequate-zinc diet limited to the intake of -ZnAL pair-mates (+ZnPF). Tail blood was sampled to measure osmotic fragility and SH concentration of erythrocyte membrane proteins. The zinc-deficient rats were then repleted for 2 d and erythrocytes assayed for fragility and SH content. In the second experiment blood was sampled at 3-d intervals to determine the time course of change in fragility and SH concentration. In the third experiment the SH concentration of erythrocyte band 3 protein and the binding of zinc to isolated plasma membranes were measured. SH concentration decreased from approximately 75 nmol/mg protein to 68 nmol/mg protein during 21 d of depletion and returned to control level within 2 d of repletion. There was an inverse relationship between osmotic fragility and SH concentration of erythrocyte membrane proteins. Maximal decrease in SH occurred within 6 d of consuming the low-zinc diet. The SH content of band 3 protein isolated from deficient rats was also significantly lower than that of pair-fed controls (45 vs. 51 nmol/mg protein). The zinc-binding affinity of plasma membrane proteins tended to be decreased by zinc deficiency. In summary, low-zinc status lowers the plasma membrane SH concentration, and the decreased reducing potential is inversely related to osmotic fragility, and presumably, with impaired volume recovery of erythrocytes. (+info)

Abnormalities of zinc and copper during total parenteral nutrition. (5/430)

Changes in serum zinc and copper levels were studied in 19 tumor bearing patients undergoing parenteral nutrition (TPN) for five to 42 days. Before initiation of intravenous feeding mean serum zinc and copper concentrations were within normal limits but during TPN levels decreased significantly below those measured prior to parenteral nutrition. During TPN nitrogen, zinc, and copper intake, urinary output and serum levels were studied prospectively in nine of these patients. These nine patients exhibited positive nitrogen retention based upon urinary nitrogen excretion, but elevated urinary zinc and copper excretion and lowered serum zinc and copper concentrations. Neither blood administration nor limited oral intake was consistently able to maintain normal serum levels of zinc or copper. Zinc and copper supplementation of hyperalimentation fluids in four patients studied for five to 16 days was successful in increasing serum zinc and copper levels in only two. The data obtained suggest that patients undergoing parenteral nutrition may require supplementation of zinc and copper to prevent deficiencies of these elements. (+info)

Nutritionally induced anovulation in beef heifers: ovarian and endocrine function preceding cessation of ovulation. (6/430)

Angus x Hereford heifers were used to determine endocrine and ovarian function preceding nutritionally induced anovulation. Six heifers were fed to maintain body condition score (M), and 12 heifers were fed a restricted diet (R) until they became anovulatory. Starting on d 13 of an estrous cycle, heifers were given PGF2alpha every 16 d thereafter to synchronize and maintain 16 d estrous cycles. Ovarian structures of M and R heifers were monitored by ultrasonography daily from d 8 to ovulation (d 1 of the subsequent cycle) until R heifers became anovulatory. Concentrations of LH and FSH were quantified in serum samples collected every 10 min for 8 h on d 2 and 15 (48 h after PGF2alpha), and estradiol and IGF-I were quantified in daily plasma samples from d 8 to 16 during the last ovulatory cycle (Cycle -2) and the subsequent anovulatory cycle (Cycle -1). During the last two cycles before anovulation, M heifers had 50% larger (P < .0001) ovulatory follicles than R heifers and 61% greater (P < .0001) growth rate of the ovulatory follicles. There was a treatment x cycle x day effect (P < .001) for concentrations of estradiol. The preovulatory increase in estradiol occurred in the R and M heifers during Cycle -2 but only in M heifers during Cycle -1. A treatment x cycle x day effect (P < .05) influenced LH concentrations. During Cycle -2, LH concentrations were similar for M and R heifers, but during Cycle -1, M heifers had greater LH concentrations than did R heifers. Concentrations of FSH were greater (P < .05) in R than M heifers after induced luteolysis when R heifers failed to ovulate. There was a treatment x cycle interaction (P < .05) for IGF-I concentrations, and M heifers had 4.7- and 8.6-fold greater IGF-I concentrations than did R heifers during Cycle -2 and -1, respectively. We conclude that growth rate and diameter of the ovulatory follicle, and concentrations of LH, estradiol, and IGF-I are reduced before the onset of nutritionally induced anovulation in beef heifers. (+info)

Effect of 6 months of GH treatment on myosin heavy chain composition in GH-deficient patients. (7/430)

OBJECTIVE: To investigate the effect of GH on myosin heavy chain (MHC) isoform composition, physical fitness and body composition in GH-deficient (GHD) patients. DESIGN: Twenty-two GHD patients were randomized in a double blind manner and half were treated with recombinant human GH (rhGH) and half were treated with placebo for 6 months. Twelve age-matched controls were also included in the study. METHODS: MHC isoform composition in biopsies obtained from the vastus lateralis muscle was determined using SDS-PAGE. Physical fitness was determined on a bicycle ergometer and body composition was determined using bioelectrical impedance analysis. RESULTS: More MHC IIX (28.9 +/- 4.1% and 10.0 +/- 3.1% in GHD and controls respectively (means +/- S.E.M.)) and less MHC I (36.2 +/- 2.4% and 51.7 +/- 3.9% in GHD and controls respectively (means +/- S.E.M.)) were present in the GHD patients compared with the controls. No significant difference in the amount of MHC IIA was detected. Linear regression was used to determine the relationship between variables. There were no significant relationships between the concentration of insulin-like growth factor-I (IGF-I) or the body composition and the MHC composition. Maximal oxygen uptake (VO(2)max) per kg body weight (BW) (litres/min per kg) correlated significantly with the amount of MHC I (r=0.60) and MHC IIX (r=-0.72) but not with the amount of MHC IIA (r=0.35). Treatment of GHD patients with rhGH for 6 months increased the concentration of IGF-I, lean body mass and decreased fat mass but had no effect on MHC composition and physical fitness. CONCLUSIONS: We conclude that a major part of the differences in MHC composition between GHD patients and age-matched controls can be explained by variation in physical fitness. The severity of the GHD and the body composition does not seem to be important for the MHC composition. Furthermore, treatment with GH for 6 months does not affect MHC composition in GHD patients. (+info)

Sonomorphologic evaluation of goiter in an iodine deficiency area in the Ivory Coast. (8/430)

OBJECTIVES: This study evaluated the extent of thyroid abnormalities in a remote iodine-deficient area of the Ivory Coast. METHODS: Ultrasonography was used in detecting the presence of goiter. RESULTS: The overall prevalence rates of goiter were 64.7% among females and 53.3% among males. In children aged 6 to 15 years (n = 314), the prevalence of goiter was 62% regardless of sex. Thyroid volume increased steadily with age, with significantly larger goiters in women 25 years and older. Frequency of cysts and calcifications did not correlate with sex. CONCLUSIONS: Especially in developing countries, prophylaxis of iodine deficiency disorders must be improved in iodine-deficient areas to prevent substantial morbidity, which is more severe in women and elderly persons. (+info)

Mannosidosis is a rare inherited metabolic disorder caused by a deficiency of the enzyme alpha-mannosidase, which is responsible for breaking down complex sugar molecules called mannose-rich oligosaccharides. When the enzyme is not functioning properly, these sugar molecules accumulate in various tissues and organs, leading to progressive damage.

There are two main types of Mannosidosis: type I (also known as classic Mannosidosis) and type II (also known as mild or attenuated Mannosidosis). The symptoms and severity of the disease can vary widely between individuals and between the two types, but may include developmental delays, intellectual disability, coarse facial features, skeletal abnormalities, hearing loss, recurrent respiratory infections, and vision problems.

The diagnosis of Mannosidosis is typically made through enzyme assay and genetic testing. Treatment is primarily supportive and may include physical therapy, speech therapy, hearing aids, and management of respiratory and other medical issues as they arise. In some cases, bone marrow transplantation may be considered as a treatment option.

Carbamoyl-phosphate synthase I (CPS1) deficiency disease is a rare inherited disorder of urea synthesis, which can lead to hyperammonemia (elevated blood ammonia levels) and life-threatening neurological symptoms. CPS1 is an enzyme that plays a crucial role in the first step of the urea cycle, where it catalyzes the conversion of ammonia and bicarbonate into carbamoyl phosphate.

In CPS1 deficiency disease, mutations in the CPS1 gene lead to reduced or absent enzyme activity, impairing the body's ability to detoxify ammonia. As a result, toxic levels of ammonia accumulate in the blood and can cause irreversible brain damage, intellectual disability, coma, or even death if not treated promptly and effectively.

Symptoms of CPS1 deficiency disease may include poor feeding, vomiting, lethargy, hypotonia (low muscle tone), seizures, and developmental delays. The severity of the disorder can vary widely, from a severe neonatal-onset form with early symptoms appearing within the first few days of life to a milder late-onset form that may not become apparent until later in infancy or childhood.

Treatment typically involves a combination of dietary restrictions, medications to lower ammonia levels and support liver function, and, in some cases, liver transplantation. Early diagnosis and intervention are critical for improving outcomes and minimizing the risk of long-term neurological complications.

Immunologic deficiency syndromes refer to a group of disorders characterized by defective functioning of the immune system, leading to increased susceptibility to infections and malignancies. These deficiencies can be primary (genetic or congenital) or secondary (acquired due to environmental factors, medications, or diseases).

Primary immunodeficiency syndromes (PIDS) are caused by inherited genetic mutations that affect the development and function of immune cells, such as T cells, B cells, and phagocytes. Examples include severe combined immunodeficiency (SCID), common variable immunodeficiency (CVID), Wiskott-Aldrich syndrome, and X-linked agammaglobulinemia.

Secondary immunodeficiency syndromes can result from various factors, including:

1. HIV/AIDS: Human Immunodeficiency Virus infection leads to the depletion of CD4+ T cells, causing profound immune dysfunction and increased vulnerability to opportunistic infections and malignancies.
2. Medications: Certain medications, such as chemotherapy, immunosuppressive drugs, and long-term corticosteroid use, can impair immune function and increase infection risk.
3. Malnutrition: Deficiencies in essential nutrients like protein, vitamins, and minerals can weaken the immune system and make individuals more susceptible to infections.
4. Aging: The immune system naturally declines with age, leading to an increased incidence of infections and poorer vaccine responses in older adults.
5. Other medical conditions: Chronic diseases such as diabetes, cancer, and chronic kidney or liver disease can also compromise the immune system and contribute to immunodeficiency syndromes.

Immunologic deficiency syndromes require appropriate diagnosis and management strategies, which may include antimicrobial therapy, immunoglobulin replacement, hematopoietic stem cell transplantation, or targeted treatments for the underlying cause.

Multiple sulfatase deficiency (MSD) is a rare inherited metabolic disorder that affects multiple organ systems in the body. It is caused by mutations in the SUMF1 gene, which provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). FGE is essential for the function of several sulfatase enzymes, which are responsible for removing sulfate groups from certain sugar molecules attached to proteins and lipids.

In MSD, the activity of all or most of these sulfatase enzymes is reduced or absent, leading to the accumulation of sulfated molecules in various tissues and organs. This can result in a wide range of symptoms that typically appear in infancy or early childhood, including developmental delay, intellectual disability, coarse facial features, skeletal abnormalities, vision and hearing loss, and problems with mobility and coordination.

MSD is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the disease. The incidence of MSD is estimated to be less than 1 in 1 million people worldwide. Currently, there is no cure for MSD and treatment is focused on managing symptoms and improving quality of life.

Pyruvate carboxylase deficiency disease is a rare inherited metabolic disorder that affects the body's ability to break down proteins, fats, and carbohydrates for energy. It is caused by mutations in the Pyruvate Carboxylase (PC) gene, which provides instructions for making an enzyme called pyruvate carboxylase. This enzyme plays a critical role in gluconeogenesis, a process that takes place in the liver and kidneys to produce glucose, a simple sugar that is a primary source of energy for the body.

In pyruvate carboxylase deficiency disease, the enzyme's activity is significantly reduced or absent, leading to an accumulation of toxic levels of certain metabolic intermediates, such as lactic acid and pyruvic acid, in the blood and other tissues. This accumulation can cause a range of symptoms, including developmental delay, seizures, poor muscle tone, difficulty breathing, and feeding problems.

The severity of pyruvate carboxylase deficiency disease varies widely, depending on the degree of enzyme activity that is affected. Some individuals may have mild symptoms, while others may experience severe, life-threatening complications. Treatment typically involves managing symptoms and providing supportive care to help prevent complications. In some cases, a low-protein diet or supplementation with certain vitamins and minerals may be recommended to help reduce the accumulation of toxic metabolites.

Pyruvate Dehydrogenase Complex (PDH) Deficiency is a genetic disorder that affects the body's ability to convert certain food molecules into energy. The pyruvate dehydrogenase complex is a group of enzymes that converts pyruvate, a byproduct of glucose metabolism in the cell's cytoplasm, into acetyl-CoA, which then enters the citric acid cycle (also known as the Krebs cycle) in the mitochondria to produce energy in the form of ATP.

PDH deficiency results from mutations in one or more genes encoding the subunits of the PDH complex or its activators, leading to reduced enzymatic activity. This impairs the conversion of pyruvate to acetyl-CoA and causes an accumulation of pyruvate in body tissues and fluids, particularly during periods of metabolic stress such as illness, infection, or fasting.

The severity of PDH deficiency can vary widely, from mild to severe forms, depending on the extent of enzyme dysfunction. Symptoms may include developmental delay, hypotonia (low muscle tone), seizures, poor feeding, and metabolic acidosis. In severe cases, it can lead to neurological damage, lactic acidosis, and early death if not diagnosed and treated promptly.

PDH deficiency is typically diagnosed through biochemical tests that measure the activity of the PDH complex in cultured skin fibroblasts or muscle tissue. Genetic testing may also be used to identify specific gene mutations causing the disorder. Treatment usually involves a low-carbohydrate, high-fat diet and supplementation with thiamine (vitamin B1), which is an essential cofactor for PDH complex activity. In some cases, dialysis or other supportive measures may be necessary to manage metabolic acidosis and other complications.

Deficiency diseases are a group of medical conditions that occur when an individual's diet lacks essential nutrients, such as vitamins and minerals. These diseases develop because the body needs these nutrients to function correctly, and without them, various bodily functions can become impaired, leading to disease.

Deficiency diseases can manifest in many different ways, depending on which nutrient is lacking. For example:

* Vitamin A deficiency can lead to night blindness and increased susceptibility to infectious diseases.
* Vitamin C deficiency can result in scurvy, a condition characterized by fatigue, swollen gums, joint pain, and anemia.
* Vitamin D deficiency can cause rickets in children, a disease that leads to weakened bones and skeletal deformities.
* Iron deficiency can result in anemia, a condition in which the blood lacks adequate healthy red blood cells.

Preventing deficiency diseases involves eating a balanced diet that includes a variety of foods from all the major food groups. In some cases, supplements may be necessary to ensure adequate nutrient intake, especially for individuals who have restricted diets or medical conditions that affect nutrient absorption.

Ornithine Carbamoyltransferase (OCT) Deficiency Disease, also known as Ornithine Transcarbamylase Deficiency, is a rare inherited urea cycle disorder. It is caused by a deficiency of the enzyme ornithine carbamoyltransferase, which is responsible for one of the steps in the urea cycle that helps to rid the body of excess nitrogen (in the form of ammonia).

When OCT function is impaired, nitrogen accumulates and forms ammonia, leading to hyperammonemia (elevated blood ammonia levels), which can cause neurological symptoms such as lethargy, vomiting, irritability, and in severe cases, coma or death.

Symptoms of OCT deficiency can range from mild to severe and may include developmental delay, seizures, behavioral changes, and movement disorders. The diagnosis is typically made through newborn screening tests, enzyme assays, and genetic testing. Treatment usually involves a combination of dietary restrictions, medications that help remove nitrogen from the body, and in some cases, liver transplantation.

Vitamin A deficiency (VAD) is a condition that occurs when there is a lack of vitamin A in the diet. This essential fat-soluble vitamin plays crucial roles in vision, growth, cell division, reproduction, and immune system regulation.

In its severe form, VAD leads to xerophthalmia, which includes night blindness (nyctalopia) and keratomalacia - a sight-threatening condition characterized by dryness of the conjunctiva and cornea, with eventual ulceration and perforation. Other symptoms of VAD may include Bitot's spots (foamy, triangular, white spots on the conjunctiva), follicular hyperkeratosis (goose bump-like bumps on the skin), and increased susceptibility to infections due to impaired immune function.

Vitamin A deficiency is most prevalent in developing countries where diets are often low in animal source foods and high in plant-based foods with low bioavailability of vitamin A. It primarily affects children aged 6 months to 5 years, pregnant women, and lactating mothers. Prevention strategies include dietary diversification, food fortification, and supplementation programs.

Alpha 1-Antitrypsin (AAT) deficiency is a genetic disorder that results from insufficient levels of the protective protein AAT in the blood and lungs. This protein is produced by the liver and helps to protect the lungs from damage caused by inflammation and the action of enzymes, such as neutrophil elastase, that are released during the immune response.

In people with AAT deficiency, the lack of adequate AAT levels leads to an uncontrolled increase in neutrophil elastase activity, which can cause damage to lung tissue and result in emphysema, a condition characterized by shortness of breath, coughing, and wheezing. Additionally, some individuals with AAT deficiency may develop liver disease due to the accumulation of abnormal AAT proteins in liver cells.

There are different variants or genotypes associated with AAT deficiency, with the most common and severe form being the PiZZ genotype. This variant is caused by mutations in the SERPINA1 gene, which encodes for the AAT protein. Individuals who inherit two copies of this mutated gene (one from each parent) will have very low levels of AAT in their blood and are at increased risk of developing emphysema and liver disease.

Diagnosis of AAT deficiency typically involves measuring AAT levels in the blood and performing genetic testing to identify specific variants of the SERPINA1 gene. Treatment may include lifestyle modifications, such as smoking cessation, bronchodilators, and corticosteroids to manage lung symptoms, as well as augmentation therapy with intravenous infusions of AAT protein to help slow disease progression in individuals with severe deficiency. Liver transplantation may be considered for those with advanced liver disease.

Vitamin B12 deficiency is a condition characterized by insufficient levels of vitamin B12 in the body, leading to impaired production of red blood cells, nerve function damage, and potential neurological complications. Vitamin B12 is an essential nutrient that plays a crucial role in DNA synthesis, fatty acid metabolism, and maintaining the health of the nervous system.

The medical definition of vitamin B12 deficiency includes:

1. Reduced serum or whole blood vitamin B12 concentrations (typically below 200 pg/mL or 145 pmol/L)
2. Presence of clinical symptoms and signs, such as:
* Fatigue, weakness, and lethargy
* Pale skin, shortness of breath, and heart palpitations due to anemia (megaloblastic or macrocytic anemia)
* Neurological symptoms like numbness, tingling, or burning sensations in the hands and feet (peripheral neuropathy), balance problems, confusion, memory loss, and depression
3. Laboratory findings consistent with deficiency, such as:
* Increased mean corpuscular volume (MCV) of red blood cells
* Reduced numbers of red and white blood cells and platelets in severe cases
* Elevated homocysteine and methylmalonic acid levels in the blood due to impaired metabolism

The most common causes of vitamin B12 deficiency include dietary insufficiency (common in vegetarians and vegans), pernicious anemia (an autoimmune condition affecting intrinsic factor production), gastrointestinal disorders (such as celiac disease, Crohn's disease, or gastric bypass surgery), and certain medications that interfere with vitamin B12 absorption.

Untreated vitamin B12 deficiency can lead to severe complications, including irreversible nerve damage, cognitive impairment, and increased risk of cardiovascular diseases. Therefore, prompt diagnosis and treatment are essential for preventing long-term health consequences.

Vitamin D deficiency is a condition characterized by insufficient levels of vitamin D in the body, typically defined as a serum 25-hydroxyvitamin D level below 20 nanograms per milliliter (ng/mL) or 50 nanomoles per liter (nmol/L). Vitamin D is an essential fat-soluble vitamin that plays a crucial role in maintaining healthy bones and teeth by regulating the absorption of calcium and phosphorus. It also has various other functions in the body, including modulation of cell growth, immune function, and neuromuscular activity.

Vitamin D can be obtained through dietary sources such as fatty fish, fortified dairy products, and supplements, but the majority of vitamin D is produced in the skin upon exposure to sunlight. Deficiency can occur due to inadequate dietary intake, insufficient sun exposure, or impaired absorption or metabolism of vitamin D.

Risk factors for vitamin D deficiency include older age, darker skin tone, obesity, malabsorption syndromes, liver or kidney disease, and certain medications. Symptoms of vitamin D deficiency can be subtle and nonspecific, such as fatigue, bone pain, muscle weakness, and mood changes. However, prolonged deficiency can lead to more severe health consequences, including osteoporosis, osteomalacia, and increased risk of fractures.

Folic Acid Deficiency is a condition characterized by insufficient levels of folic acid (Vitamin B9) in the body. Folic acid plays an essential role in the synthesis of DNA and RNA, the production of red blood cells, and the prevention of neural tube defects during fetal development.

A deficiency in folic acid can lead to a variety of health issues, including:
- Megaloblastic anemia: A type of anemia characterized by large, structurally abnormal, immature red blood cells (megaloblasts) that are unable to function properly. This results in fatigue, weakness, shortness of breath, and a pale appearance.
- Neural tube defects: In pregnant women, folic acid deficiency can increase the risk of neural tube defects, such as spina bifida and anencephaly, in the developing fetus.
- Developmental delays and neurological disorders: In infants and children, folic acid deficiency during pregnancy can lead to developmental delays, learning difficulties, and neurological disorders.
- Increased risk of cardiovascular disease: Folate plays a role in maintaining healthy homocysteine levels. Deficiency can result in elevated homocysteine levels, which is an independent risk factor for cardiovascular disease.

Folic acid deficiency can be caused by various factors, including poor dietary intake, malabsorption syndromes (such as celiac disease or Crohn's disease), pregnancy, alcoholism, certain medications (like methotrexate and phenytoin), and genetic disorders affecting folate metabolism. To prevent or treat folic acid deficiency, dietary supplementation with folic acid is often recommended, especially for pregnant women and individuals at risk of deficiency.

IgA deficiency is a condition characterized by significantly reduced levels or absence of secretory immunoglobulin A (IgA), an important antibody that plays a crucial role in the immune function of mucous membranes lining the respiratory and gastrointestinal tracts. IgA helps to prevent the attachment and multiplication of pathogens, such as bacteria and viruses, on these surfaces.

In individuals with IgA deficiency, the lack of adequate IgA levels makes them more susceptible to recurrent infections, allergies, and autoimmune disorders. The condition can be asymptomatic or may present with various symptoms, such as respiratory tract infections, gastrointestinal issues, and chronic sinusitis. IgA deficiency is typically diagnosed through blood tests that measure the immunoglobulin levels. While there is no cure for IgA deficiency, treatment focuses on managing symptoms and preventing infections through medications, immunizations, and lifestyle modifications.

Thiamine deficiency, also known as beriberi, is a condition that results from inadequate intake or impaired absorption of thiamine (vitamin B1), which is essential for energy metabolism and nerve function. This deficiency can lead to various symptoms such as peripheral neuropathy, muscle weakness, heart failure, and in severe cases, Wernicke-Korsakoff syndrome, a neurological disorder associated with alcoholism. Thiamine deficiency is commonly found in populations with poor nutrition, alcohol dependence, and gastrointestinal disorders affecting nutrient absorption.

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic disorder that affects the normal functioning of an enzyme called G6PD. This enzyme is found in red blood cells and plays a crucial role in protecting them from damage.

In people with G6PD deficiency, the enzyme's activity is reduced or absent, making their red blood cells more susceptible to damage and destruction, particularly when they are exposed to certain triggers such as certain medications, infections, or foods. This can lead to a condition called hemolysis, where the red blood cells break down prematurely, leading to anemia, jaundice, and in severe cases, kidney failure.

G6PD deficiency is typically inherited from one's parents in an X-linked recessive pattern, meaning that males are more likely to be affected than females. While there is no cure for G6PD deficiency, avoiding triggers and managing symptoms can help prevent complications.

Magnesium deficiency, also known as hypomagnesemia, is a condition characterized by low levels of magnesium in the blood. Magnesium is an essential mineral that plays a crucial role in many bodily functions, including muscle and nerve function, heart rhythm, bone strength, and immune system regulation.

Hypomagnesemia can occur due to various factors, such as poor dietary intake, malabsorption syndromes, chronic alcoholism, diabetes, certain medications (such as diuretics), and excessive sweating or urination. Symptoms of magnesium deficiency may include muscle cramps, tremors, weakness, heart rhythm abnormalities, seizures, and mental status changes.

It is important to note that mild magnesium deficiency may not cause any symptoms, and the diagnosis typically requires blood tests to measure magnesium levels. Treatment for hypomagnesemia usually involves oral or intravenous magnesium supplementation, along with addressing the underlying causes of the deficiency.

Iron-deficiency anemia is a condition characterized by a decrease in the total amount of hemoglobin or red blood cells in the blood, caused by insufficient iron levels in the body. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. When iron levels are low, the body cannot produce enough hemoglobin, leading to the production of smaller and fewer red blood cells, known as microcytic hypochromic anemia.

Iron is essential for the production of hemoglobin, and a deficiency in iron can result from inadequate dietary intake, chronic blood loss, or impaired absorption. In addition to fatigue and weakness, symptoms of iron-deficiency anemia may include shortness of breath, headaches, dizziness, pale skin, and brittle nails. Treatment typically involves iron supplementation and addressing the underlying cause of the iron deficiency.

Vitamin E deficiency is a condition that occurs when there is a lack of sufficient vitamin E in the body. Vitamin E is a fat-soluble antioxidant that plays an essential role in maintaining the health of cell membranes, protecting them from damage caused by free radicals. It also helps to support the immune system and promotes healthy blood vessels and nerves.

Vitamin E deficiency can occur due to several reasons, including malnutrition, malabsorption disorders such as cystic fibrosis or celiac disease, premature birth, or genetic defects affecting the alpha-tocopherol transfer protein (alpha-TTP), which is responsible for transporting vitamin E from the liver to other tissues.

Symptoms of vitamin E deficiency may include:

* Neurological problems such as peripheral neuropathy, ataxia (loss of coordination), and muscle weakness
* Retinopathy (damage to the retina) leading to vision loss
* Increased susceptibility to oxidative stress and inflammation
* Impaired immune function

Vitamin E deficiency is rare in healthy individuals who consume a balanced diet, but it can occur in people with certain medical conditions or those who have undergone bariatric surgery. In these cases, supplementation may be necessary to prevent or treat vitamin E deficiency.

Ascorbic acid deficiency is a condition that occurs when a person does not consume or absorb adequate amounts of ascorbic acid, also known as Vitamin C. This essential nutrient plays a crucial role in the production of collagen, a protein that helps to support blood vessel, tendon, ligament, and bone health. It is also involved in the absorption of iron and the synthesis of certain neurotransmitters.

Ascorbic acid deficiency can lead to a number of symptoms and complications. In its early stages, it may cause fatigue, weakness, and joint pain. As the deficiency progresses, it can lead to more serious conditions such as scurvy, a potentially life-threatening disease characterized by anemia, gum disease, skin hemorrhages, and poor wound healing.

Scurvy is now rare in developed countries where access to fresh fruits and vegetables, which are rich sources of vitamin C, is readily available. However, it can still occur in individuals who follow restrictive diets or have malabsorption disorders that prevent them from properly absorbing the nutrient. In these cases, supplementation with ascorbic acid may be necessary to prevent deficiency and its associated complications.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Protein C deficiency is a genetic disorder that affects the body's ability to control blood clotting. Protein C is a protein in the blood that helps regulate the formation of blood clots. When blood clots form too easily or do not dissolve properly, they can block blood vessels and lead to serious medical conditions such as deep vein thrombosis (DVT) or pulmonary embolism (PE).

People with protein C deficiency have lower than normal levels of this protein in their blood, which can increase their risk of developing abnormal blood clots. The condition is usually inherited and present from birth, but it may not cause any symptoms until later in life, such as during pregnancy, after surgery, or due to other factors that increase the risk of blood clots.

Protein C deficiency can be classified into two types: type I and type II. Type I deficiency is characterized by lower than normal levels of both functional and immunoreactive protein C in the blood. Type II deficiency is characterized by normal or near-normal levels of immunoreactive protein C, but reduced functional activity.

Protein C deficiency can be diagnosed through blood tests that measure the level and function of protein C in the blood. Treatment may include anticoagulant medications to prevent blood clots from forming or dissolve existing ones. Regular monitoring of protein C levels and careful management of risk factors for blood clots are also important parts of managing this condition.

IgG deficiency is a type of immunodeficiency disorder characterized by reduced levels of immunoglobulin G (IgG) antibodies in the blood. IgG is the most common type of antibody in our body and plays a crucial role in fighting against infections.

There are four subclasses of IgG (IgG1, IgG2, IgG3, and IgG4), and a deficiency in one or more of these subclasses can lead to recurrent infections, particularly of the respiratory tract, such as sinusitis, bronchitis, and pneumonia. People with IgG deficiency may also be more susceptible to autoimmune diseases and allergies.

IgG deficiency can be inherited or acquired, and it is usually diagnosed through blood tests that measure the levels of IgG and other immunoglobulins in the blood. Treatment typically involves preventing infections through vaccinations, antibiotics to treat infections, and in some cases, replacement therapy with intravenous immunoglobulin (IVIG) to boost the immune system.

Vitamin B6 deficiency refers to the condition in which there is an insufficient amount of vitamin B6 (pyridoxine) in the body. Vitamin B6 is an essential nutrient that plays a crucial role in various bodily functions, including protein metabolism, neurotransmitter synthesis, hemoglobin production, and immune function.

A deficiency in vitamin B6 can lead to several health issues, such as:

1. Anemia: Vitamin B6 is essential for the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. A deficiency in this nutrient can lead to anemia, characterized by fatigue, weakness, and shortness of breath.
2. Peripheral neuropathy: Vitamin B6 deficiency can cause nerve damage, leading to symptoms such as numbness, tingling, and pain in the hands and feet.
3. Depression and cognitive impairment: Pyridoxine is necessary for the synthesis of neurotransmitters like serotonin and dopamine, which are involved in mood regulation. A deficiency in vitamin B6 can lead to depression, irritability, and cognitive decline.
4. Seizures: In severe cases, vitamin B6 deficiency can cause seizures due to the impaired synthesis of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter that helps regulate brain activity.
5. Skin changes: A deficiency in this nutrient can also lead to skin changes, such as dryness, scaling, and cracks around the mouth.

Vitamin B6 deficiency is relatively uncommon in developed countries but can occur in individuals with certain medical conditions, such as malabsorption syndromes, alcoholism, kidney disease, or those taking medications that interfere with vitamin B6 metabolism. Additionally, older adults, pregnant women, and breastfeeding mothers may have an increased need for this nutrient, making them more susceptible to deficiency.

Factor V deficiency is a rare bleeding disorder that is caused by a mutation in the gene that produces coagulation factor V, a protein involved in the clotting process. This condition can lead to excessive bleeding following injury or surgery, and may also cause menorrhagia (heavy menstrual periods) in women.

Factor V deficiency is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. People who inherit only one copy of the mutated gene are carriers and may have a milder form of the disorder or no symptoms at all.

Treatment for factor V deficiency typically involves replacement therapy with fresh frozen plasma or clotting factor concentrates, which can help to reduce bleeding episodes and prevent complications. In some cases, medications such as desmopressin or antifibrinolytics may also be used to manage the condition.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

Riboflavin deficiency, also known as ariboflavinosis, is a condition that results from inadequate intake or absorption of riboflavin (vitamin B2). This vitamin plays a crucial role in energy production, cellular function, growth, and development.

The medical definition of riboflavin deficiency includes the following symptoms:

1. Fatigue and weakness due to impaired energy production
2. Swelling and inflammation of the mouth and tongue, which can lead to painful lesions, soreness, and a smooth red tongue (glossitis)
3. Angular cheilosis - cracks at the corners of the mouth
4. Skin disorders such as seborrheic dermatitis, characterized by scaly, itchy, or greasy skin around the nose, eyebrows, ears, and genital area
5. Anemia due to impaired synthesis of heme (the iron-containing component of hemoglobin)
6. Impaired vision, particularly in low light conditions, due to damage to the light-sensitive cells in the eyes (photosensitivity)
7. Nerve damage and degeneration leading to neurological symptoms such as numbness, tingling, or burning sensations in the hands and feet
8. Slowed growth and development in children
9. Increased susceptibility to infections due to impaired immune function

Riboflavin deficiency is usually seen in individuals with poor nutrition, alcoholism, or those who have conditions affecting nutrient absorption, such as celiac disease or inflammatory bowel disease. Additionally, certain medications and pregnancy may increase the risk of riboflavin deficiency.

This inborn error of metabolism, resulting in failure to thrive, became known as trypsinogen deficiency disease. In 1972, he ... Townes, Philip L. (1965). "Trypsinogen deficiency disease". The Journal of Pediatrics. 66 (2): 275-285. doi:10.1016/s0022-3476( ... Morris, M. D. (1967-08-01). "Trypsinogen Deficiency Disease". Archives of Pediatrics & Adolescent Medicine. 114 (2): 203-208. ... that became known as trypsinogen deficiency disease. Philip Leonard 'Len' Townes was born February 18, 1927, in Salem, ...

https://en.wikipedia.org/wiki/Philip_L._Townes

C4: C4 deficiency is highly associated with systemic lupus erythematosus. Aβ42, a protein involved in Alzheimer's disease, can ... "Complement Deficiencies. What are complement deficiencies?". patient.info. Retrieved 31 December 2017. "Complement Deficiencies ... In terms of management for complement deficiency, immunosuppressive therapy should be used depending on the disease presented. ... MBL deficiency can be inherited by either manner. Properdin deficiency is an X-linked disorder that also causes susceptibility ...

https://en.wikipedia.org/wiki/Complement_deficiency

Department of Equine diseases; Department of Deficiency diseases; Department of Reproduction Pathophysiology; Laboratory of ... 3. Bydgoszcz branch of the Institute of Potato in Bonin, with a local laboratory of Disease and Pest Quarantine. 4. Bydgoszcz ... This research department focuses primarily on diagnosis and control of animal disease (horses, domestic cattle). This ... aphids disease on peach tree; fight against bovine tuberculosis; fields irrigation and fertilization impact on harvesting. In ...

https://en.wikipedia.org/wiki/Institutes_of_Agriculture,_Bydgoszcz

Celiac disease Alopecia Areata Primary immune deficiency diseases are those caused by inherited genetic mutations. Secondary or ... Chronic granulomatous disease (CGD): a deficiency in NADPH oxidase enzyme, which causes failure to generate oxygen radicals. ... X-linked lymphoproliferative disease (XLP) Ataxia-telangiectasia Secondary immune deficiencies AIDS An allergy is an abnormal ... "Primary Immune Deficiency Diseases". Department of Health and Human Services: National Institutes of Health. Retrieved 31 ...

https://en.wikipedia.org/wiki/Immune_disorder

Mingorance, Ana (30 January 2020). "CDKL5 Deficiency Disorder Added to WHO International Classification of Diseases". ... "CDKL5-deficiency disorder". Orpha.net. Retrieved 22 June 2021. "Abcam and Loulou Foundation form CDKL5 deficiency disorder ... CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5. The symptoms of CDD ... These disease-modifying therapies are hoped to provide broader and more durable therapeutic benefit, and even eventual cures. ...

https://en.wikipedia.org/wiki/CDKL5_deficiency_disorder

... is the name of a fake disease imagined for a health campaign to raise awareness of disease ... Moynihan, R. (2006). "Scientists find new disease: Motivational deficiency disorder". BMJ. 332 (7544): 745. doi:10.1136/bmj. ... Although a spoof, some news outlets have reported the disease as if this were a real disorder. The disease was invented and ... 4-minute report about motivational deficiency disorder 1-minute video advertising a drug to treat motivational deficiency ...

https://en.wikipedia.org/wiki/Motivational_deficiency_disorder

doi:10.1111/j.1467-3010.2003.00398.x. Henrikson, P.A. (1968). "Periodontal disease and calcium deficiency. An experimental ... Oral disease is one of the most common diseases found in dogs. It is caused by the buildup of various anaerobic bacteria in the ... Grove, T.K. (1985). "Periodontal disease". Veterinary Disease: 59-78. Phillips, F. (2004). "Diet and bone health". Nutrition ... Deficiencies negatively impact parts of the teeth including the gingivae, periodontal ligaments and the alveolar bone, leading ...

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Green, R. G.; Evans, C. A. (1940). "A Deficiency Disease of Foxes". Science. 92 (2381): 154-155. Bibcode:1940Sci....92..154G. ... he did research on the ecology of skin microflora and its role in the etiology and pathogenesis of disease. Evans was elected ... The Journal of Infectious Diseases. 98 (1): 88-97. doi:10.1093/infdis/98.1.88. JSTOR 30094234. PMID 13295630. Sample, Donald W ...

https://en.wikipedia.org/wiki/Charles_Albert_Evans

"Phosphofructokinase Deficiency Glycogen Storage Disease". Bauer S, Kemter K, Bacher A, Huber R, Fischer M, Steinbacher S (March ... Tarui's disease, a glycogen storage disease that leads to exercise intolerance, is due to a mutation in the PFK gene that ... Castleman's disease)". Clinical Infectious Diseases. 22 (6): 1120-1121. doi:10.1093/clinids/22.6.1120. PMID 8783733. Scheeff ED ... Mutations in kinases that lead to a loss-of-function or gain-of-function can cause cancer and disease in humans, including ...

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Kint, J. A. (1970-02-27). "Fabry's Disease: Alpha-Galactosidase Deficiency". Science. 167 (3922): 1268-1269. Bibcode:1970Sci... ... Lack of alpha-galactosidase activity in leukocytes has been linked to Fabry Disease. Galactosidases have a variety of uses, ...

https://en.wikipedia.org/wiki/Galactosidases

Patel, D; Teckman, JH (November 2018). "Alpha-1-Antitrypsin Deficiency Liver Disease". Clinics in Liver Disease. 22 (4): 643- ... PAS diastase stain is also used in diagnosing Whipple's disease, as the foamy macrophages that infiltrate the lamina propria of ... Misbah, S.A.; Mapstone, N.P. (2000). "Whipple's disease revisited". Journal of Clinical Pathology. 53 (10): 750-755. doi: ... which is a characteristic finding of alpha-1 antitrypsin deficiency. ...

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Collin P, Mäki M, Keyriläinen O, Hällström O, Reunala T, Pasternack A (1992). "Selective IgA deficiency and coeliac disease". ... Greater than 10 equals disease and a value of 3 is expected (mean)[citation needed]. Individuals who have coeliac disease may ... Refractory coeliac disease (RCD). RCD or non-strict gluten-free diet are two causes of failure of AGA to return to normality on ... This antibody is found in ~80% of patients with coeliac disease. It is directed against the alpha/beta and gamma (α,β,γ) ...

https://en.wikipedia.org/wiki/Anti-gliadin_antibodies

"KEGG DISEASE: Combined oxidative phosphorylation deficiency". www.genome.jp. Atkinson, Gemma C; Hauryliuk, Vasili; Tenson, ...

https://en.wikipedia.org/wiki/Elongation_factor

Funk C (1912). "The etiology of the deficiency diseases. Beri-beri, polyneuritis in birds, epidemic dropsy, scurvy, ... The word "vitamine" is coined on p. 342: "It is now known that all these diseases, with the exception of pellagra, can be ... It has also been suggested that a deficiency hinders brain development in infants and may be a cause of sudden infant death ... In Western countries, chronic alcoholism is a risk factor for deficiency. Also at risk are older adults, persons with HIV/AIDS ...

https://en.wikipedia.org/wiki/Thiamine

Funk, C (1912). "The etiology of the deficiency diseases. Beri-beri, polyneuritis in birds, epidemic dropsy, scurvy, ... Pantothenic acid deficiency in humans is very rare and has not been thoroughly studied. In the few cases where deficiency has ... Symptoms of deficiency are similar to other vitamin B deficiencies. There is impaired energy production, due to low CoA levels ... Deficiency of pantothenic acid is very rare in humans. In dietary supplements and animal feed, the form commonly used is ...

https://en.wikipedia.org/wiki/Pantothenic_acid

doi:10.1016/S0007-1536(48)80035-5. Muskett, A. E. (1950). "Copper-Deficiency Disease of Apple Trees". Nature. 165 (4205): 900- ... He did research on the control of apple scab and (with H. Cairns and T. N. Greeves) on potato diseases. After WW II, Muskett ... In the 1930s and 1940s he did research on seed-borne diseases of oats, flax, and ryegrass. His research on plant pathology was ... doi:10.1111/j.1744-7348.1944.tb06730.x. Calvert, E. L.; Muskett, A. E. (1945). "Blind-seed disease of rye-grass (Phialea ...

https://en.wikipedia.org/wiki/Arthur_Edmund_Muskett

If there is serious deficiency in one or more of these nutrients, a child may develop a deficiency disease. Even minor ... In addition to these classical vitamin deficiency diseases, some evidence has also suggested links between vitamin deficiency ... That diseases could result from some dietary deficiencies was further investigated by Christiaan Eijkman, who in 1897 ... As a result, Arctic expeditions continued to be plagued by scurvy and other deficiency diseases. In the early 20th century, ...

https://en.wikipedia.org/wiki/Vitamin

Deficiency Diseases in Japanese Prison Camps. M.R.C Special Report No. 274. H.M. Stationery Office, London 1951. Surgery for ... Woodruff later published an account of his methods through the Medical Research Council titled "Deficiency Diseases in Japanese ... He also worked on the phenomenon known as runt disease (graft versus host disease). Although Woodruff had been productive in ... Both twins lived an additional six years before dying of an unrelated disease. Woodruff thought that he had to be vigilant with ...

https://en.wikipedia.org/wiki/Michael_Woodruff

Funk, Casimir (1912). "The etiology of the deficiency diseases. Beri-beri, polyneuritis in birds, epidemic dropsy, scurvy, ... Funk proposed the hypothesis that other diseases, such as rickets, pellagra, coeliac disease, and scurvy could also be cured by ... His Discovery of the Vitamins and Their Deficiency Disorders". Annals of Nutrition and Metabolism. 57 (2): 85-88. doi:10.1159/ ...

https://en.wikipedia.org/wiki/Casimir_Funk

"GLUT1 deficiency and other glucose transporter diseases". European Journal of Endocrinology. 150 (5): 627-33. doi:10.1530/eje. ... and glucose storage diseases. Disease associated mutations have been found in a number of human MFS transporters; those ... "Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease". Neurobiology of Disease. 65: 12-24. doi: ... MFS family members are central to human physiology and play an important role in a number of diseases, through aberrant action ...

https://en.wikipedia.org/wiki/Major_facilitator_superfamily

Francke U (2007). "Mechanisms of disease: neurogenetics of MeCP2 deficiency". Nature Clinical Practice Neurology. 2 (4): 212-21 ... At least 53 disease-causing mutations in this gene have been discovered. MECP2 protein is found in all cells in the body, ... The role of MECP2 in disease is primarily associated with either a loss of function (under expression) of the MECP2 gene as in ... The MECP2 locus is X-linked and the disease-causing alleles are dominant. Due to its prevalence in females, it has been linked ...

https://en.wikipedia.org/wiki/MECP2

Gilbert, Christopher R; Arum, Seth M; Smith, Cecilia M (2009). "Vitamin D Deficiency and Chronic Lung Disease". Canadian ... Moreover, MEIS1 deficiency causes hearing loss in mice, which is also the result observed when LHFPL paralogs lose function. ... Disease Models & Mechanisms. 10 (8): 981-991. doi:10.1242/dmm.030080. PMC 5560065. PMID 28645892. Junier, T.; Pagni, M. (1 ...

https://en.wikipedia.org/wiki/TMEM211

Deficiency is thought to cause Leiner's disease. Complement component 5 is the fifth component of complement, which plays an ... Mutations in this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe recurrent ... 1995). "Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and ...

https://en.wikipedia.org/wiki/Complement_component_5

... growth hormone deficiency, hypoparathyroidism, and other endocrinopathies. In both of these diseases, muscle involvement may ... Because the mutation in mitochondrial disease most often occurs early in gestation in these diseases, only those mitochondria ... "Mitochondrial Diseases Associated with Cerebral Folate Deficiency". Neurology. 70 (16): 1360-1362. doi:10.1212/01.wnl. ... Onset is in the first and second decades of life.[citation needed] The first symptom of this disease is a unilateral ptosis, or ...

https://en.wikipedia.org/wiki/Kearns–Sayre_syndrome

The deficiency is most commonly caused by mutations in TPI1, although mutations in other isoforms have been identified. A ... Recent discoveries in Alzheimer's disease research have indicated that amyloid beta peptide-induced nitro-oxidative damage ... Triosephosphate isomerase deficiency is a disorder characterized by a shortage of red blood cells (anemia), movement problems, ... Oláh J, Orosz F, Keserü GM, Kovári Z, Kovács J, Hollán S, Ovádi J (Apr 2002). "Triosephosphate isomerase deficiency: a ...

https://en.wikipedia.org/wiki/TPI1

"Scientists find new disease: motivational deficiency disorder". Other conditions which have been cited as examples of disease ... "Disease mongering" as a label for the "invention" or promotion of diseases in order to capitalize on their treatment was first ... Moynihan R (2006). "Scientists find new disease: motivational deficiency disorder". BMJ. 332 (7544): 745. doi:10.1136/bmj. ... present Defining a disease such that a large number of people have it Defining a disease's cause as some ambiguous deficiency ...

https://en.wikipedia.org/wiki/Disease_mongering

... sickle cell disease, chronic kidney disease, chronic liver disease have all been associated with zinc deficiency. It can also ... The mechanism of zinc deficiency in some diseases has not been well defined; it may be multifactorial.[citation needed] ... Prasad AS (March 2013). "Discovery of human zinc deficiency: its impact on human health and disease". Advances in Nutrition. 4 ... Zinc deficiency affects about 2.2 billion people around the world. Severe zinc deficiency is rare, and is mainly seen in ...

https://en.wikipedia.org/wiki/Zinc_deficiency

"Iron and Iron Deficiency". Centers for Disease Control and Prevention. 23 February 2011. Archived from the original on 8 ... "Recommendations to Prevent and Control Iron Deficiency in the United States". U.S. Centers for Disease Control and Prevention ... Symptoms of iron deficiency are not unique to iron deficiency (i.e. not pathognomonic). Iron is needed for many enzymes to ... "Recommendations to prevent and control iron deficiency in the United States. Centers for Disease Control and Prevention". MMWR ...

https://en.wikipedia.org/wiki/Iron_deficiency

Individuals with properdin deficiency are also more likely to catch the sexually transmitted disease, gonorrhea, as it is also ... Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor responsible for the ... Linton, S. M.; Morgan, B. P. (November 1999). "Properdin deficiency and meningococcal disease--identifying those most at risk ... Pertaining to complement deficiencies, there is no cure and the treatments for complement deficiencies vary widely. The best ...

https://en.wikipedia.org/wiki/Properdin_deficiency

"6-pyruvoyl-tetrahydropterin synthase deficiency , Genetic and Rare Diseases Information Center (GARD) - an NCATS Program". ... This was attributed to a deficiency of tetrahydrobiopterin (BH4), a cofactor for PAH. The most common form of BH4 deficiency is ... PTPS deficiency is not necessarily its own disease. It shares history with PKU and hyperphenylalaninemia (HPA) . Asbjørn ... PTPS deficiency can usually be detected by the same screening test used for PKU, because both disorders result in elevated ...

https://en.wikipedia.org/wiki/6-Pyruvoyltetrahydropterin_synthase_deficiency

... or glycogen synthetase deficiency, commonly appears in infancy and early childhood with fasting hypoglycemia accompanied by ... Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency) * Genetics of Glycogen Storage Disease Type VI (Hers ... Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency) * Sections Glycogen-Storage Disease Type 0 (GSD-0) ( ... Diseases & Conditions Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency) ...

https://emedicine.medscape.com/article/944467-overview

CDC report identifies maintenance deficiencies associated with outbreaks of Legionnaires disease. ... CDC report identifies maintenance deficiencies associated with outbreaks of Legionnaires disease. ... Vital Signs: Deficiencies in Environmental Control Identified in Outbreaks of Legionnaires Disease - North America, 2000-2014 ... Vital Signs: Deficiencies in Environmental Control Identified in Outbreaks of Legionnaires Disease - North America, 2000-2014 ...

https://www.cdc.gov/mmwr/volumes/65/wr/mm6522e1.htm

Crohns disease can make it harder for your body to absorb vitamins and minerals. Learn more about how to make sure youre ... Micronutrient Deficiencies and Crohns Disease Medically Reviewed by Sabrina Felson, MD on June 29, 2022 ... Deficiencies are more common when your disease is active than when you are in remission. A lack of vitamin D and vitamin K are ... Current Opinion in Clinical Nutrition & Metabolic Care: "Micronutrient deficiencies in inflammatory bowel disease." ...

https://www.webmd.com/ibd-crohns-disease/crohns-disease/micronutrient-deficiency-crohns

Vitamin D Deficiency and Tuberculosis Progression. Emerging Infectious Diseases. 2010;16(5):853-855. doi:10.3201/eid1605.091693 ... To assess the association between vitamin D deficiency and tuberculosis disease progression, we studied vitamin D levels in a ... Our findings also suggest that vitamin D deficiency may explain the higher susceptibility of women to disease progression in ... Of the 100 disease-free household contacts, 8 (8%) progressed to active disease during 4 years of follow-up. TB progression was ...

https://wwwnc.cdc.gov/eid/article/16/5/09-1693

Mutations in human and/or mouse homologs are associated with this disease. Synonyms: aldosterone synthase deficiency ... Disease Ontology Browser corticosterone methyloxidase deficiency 1 (DOID:0080626) Alliance: disease page Synonyms: aldosterone ... synthase deficiency Alt IDs: OMIM:203400, ORDO:427 Definition: An adrenal gland disease that is characterized by excessive ...

https://www.informatics.jax.org/disease/DOID:0080626

... and Bmi1 deficiency in mice results in gr … ... Late-onset sporadic Alzheimers disease (AD) is the most ... Modeling Late-Onset Sporadic Alzheimers Disease through BMI1 Deficiency Cell Rep. 2018 May 29;23(9):2653-2666. doi: 10.1016/j. ... Late-onset sporadic Alzheimers disease (AD) is the most prevalent form of dementia, but its origin remains poorly understood. ... Keywords: Alzheimers disease; BMI1; GSK3b; MAPT; Tau; amyloid; dementia; p53; polycomb; sporadic. ...

https://pubmed.ncbi.nlm.nih.gov/29847796/

Mutations in human and/or mouse homologs are associated with this disease. Synonyms: deficiency of pyruvic carboxylase ... Disease Ontology Browser pyruvate carboxylase deficiency disease (DOID:3651) Alliance: disease page Synonyms: deficiency of ... Definition: A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased ...

https://www.informatics.jax.org/disease/DOID:3651

... unexplained iron-deficiency anemia has been reported in childhood Castleman disease (CD). The recent discovery of hepcidin has ... Iron-deficiency anemia in Castleman disease: implication of the interleukin 6/hepcidin pathway Pediatrics. 2010 Dec;126(6): ... suggest that iron deficiency is a causal link between IL-6 and anemia of chronic disease. ... unexplained iron-deficiency anemia has been reported in childhood Castleman disease (CD). The recent discovery of hepcidin has ...

https://pubmed.ncbi.nlm.nih.gov/21041280/

Combined immunodeficiency is a type of primary immune deficiency disease (PIDD) in which several parts of the immune system are ... Scientists Identify Genetic Cause of Previously Undefined Primary Immune Deficiency Disease Researchers at the National ... The team that made the discovery was led by Helen Su, M.D., Ph.D., at the National Institute of Allergy and Infectious Diseases ... These findings mean that individuals with this rare disease will be able to receive a more accurate diagnosis. Identifying a ...

https://www.nih.gov/news-events/news-releases/scientists-identify-genetic-cause-previously-undefined-primary-immune-deficiency-disease

The normal CAG repeat range is 5-36, whereas 38 or more repeats are found in the diseased state; the severity of disease is ... in which subsequent generations display earlier disease onsets due to intergenerational repeat expansion1,2,3,4,5,6. For longer ... Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat ... Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. *Kevin Manley1, ...

https://www.nature.com/articles/ng1299_471?error=cookies_not_supported&code=9ef5bba8-4065-457b-b2fd-6333cf981c33

Policy - ЗАКОН КЫРГЫЗСКОЙ РЕСПУБЛИКИ О профилактике йододефицитных заболеваний [Prophylactic of Iodine Deficiency Diseases]. ... Noncommunicable Diseases and Environment Unit Monitoring progress on improving nutrition and physical activity and preventing ...

https://extranet.who.int/nutrition/gina/en/node/8845

Prevalence and prognostic implications of vitamin D deficiency in chronic kidney disease. Download Prime PubMed App to iPhone, ... "Prevalence and Prognostic Implications of Vitamin D Deficiency in Chronic Kidney Disease." Disease Markers, vol. 2015, 2015, p ... Prevalence and prognostic implications of vitamin D deficiency in chronic kidney disease. Disease Markers, 2015, 868961. https ... Obi Y, Hamano T, Isaka Y. Prevalence and prognostic implications of vitamin D deficiency in chronic kidney disease. Dis Markers ...

https://www.unboundmedicine.com/medline/citation/25883412/full_citation

Phosphoglycerate mutase deficiency is one of a group of muscle diseases that interferes with the processing of food (in this ... What is the progression of phosphoglycerate mutase deficiency?. The disease has its onset anywhere from childhood to early ... What is the status of research on phosphoglycerate mutase deficiency?. Researchers on metabolic diseases of muscle are making ... What are the symptoms of phosphoglycerate mutase deficiency?. This disease causes exercise intolerance, cramps, muscle pain and ...

https://www.mda.org/disease/metabolic-myopathies/types/phosphoglycerate-mutase-deficiency

... is an inherited disease in which the bodys cells that eat invaders (also called phagocytes) do not make hydrogen peroxide and ... Chronic granulomatous disease (CGD) is an inherited disease in which the bodys cells that eat invaders (also called phagocytes ... Chronic Granulomatous Disease Association The Chronic Granulomatous Disease Association (CGDA), founded in 1982, is a nonprofit ... Chapter 21: Chronic Granulomatous Disease and Other Phagocyte Disorders, Leukocyte Adhesion Deficiency and Neutropenia. ...

https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/chronic-granulomatous-disease-cgd-and-other?ecopen=inflammation

It is imperative to spot potential symptoms to help eradicate this deficiency before it is too late. ... VITAMIN B12 deficiency symptoms can affect nearly every part of the body. ... Vitamin B12 deficiency: Left untreated, gum disease caused by low levels could mean tooth loss (Image: Getty Images) ... Having a vitamin B12 deficiency can increase your risk of a severe form of gum disease called periodontitis. ...

https://www.express.co.uk/life-style/health/1556033/Vitamin-b12-deficiency-symptoms-pocket-depth-gum-disease-tooth-loss-foods

... deficiency in 3 adult siblings with exercise intolerance and easy fatigability. Increased muscle glycogen content and high ... Drugs & Diseases , Pediatrics: Genetics and Metabolic Disease Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or ... Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency)) and Genetics of Tarui Disease (Glycogen-Storage Disease ... Genetics of Tarui Disease (Glycogen-Storage Disease Type VII or Phosphofructokinase Deficiency) ...

https://reference.medscape.com/article/949388-overview

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency - ... Lesch-Nyhan disease: from mechanism to model and back again. Disease Models & Mechanisms, Vol. 2, Issue. 3-4, p. 116. ... Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet Journal of Rare Diseases, Vol ... Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. ...

https://www.cambridge.org/core/journals/journal-of-the-international-neuropsychological-society/article/abs/neurocognitive-functioning-in-lesch-nyhan-disease-and-partial-hypoxanthine-guanine-phosphoribosyltransferase-deficiency/5B1A36DC3BDD581042C6F2BF12FD32BC

You need to be signed in to access email alerts. If you have an account log in with your user name and password. If you dont have an account you can just enter your email address in the email box below ...

https://adc.bmj.com/content/69/2/265.1.alerts

Nutrient deficiencies are a common contributor to chronic disease states and yet they are often overlooked. Thyroid disease is ... Signs of Vitamin Deficiencies + How to Combat Them How To Live a Full Life with Thyroid Disease Leaky Gut Linked to Hashimotos ... Common Nutrient Deficiencies in Thyroid Disease. February 17, 2021. / April 10, 2023. ... Addressing Deficiencies. Whether it is due to a direct link to thyroid function or the result of secondary problems that occur ...

https://holtorfmed.com/common-nutrient-deficiencies-in-thyroid-disease/

Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimers Disease Neuropathology to Impair Cognitive Performance in ... Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimers Disease Neuropathology to Impair Cognitive Performance in ... Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimers Disease Neuropathology to Impair Cognitive Performance in ... Postsynaptic Protein Shank3a Deficiency Synergizes with Alzheimers Disease Neuropathology to Impair Cognitive Performance in ...

https://www.jneurosci.org/content/43/26/4941

Here evidence implicating omega-3 (n-3) fatty acid deficiency in the pathoaetiology of CHD and MDD is reviewed, and the ... hypothesis that n-3 fatty acid deficiency is a preventable risk factor for CHD comorbidity in MDD patients is evaluated. This ... significantly increases the risk for coronary heart disease (CHD) which is a leading cause of mortality in patients with MDD. ... Membrane Omega-3 Fatty Acid Deficiency as a Preventable Risk Factor for Comorbid Coronary Heart Disease in Major Depressive ...

https://www.hindawi.com/journals/cpn/2009/362795/

Conversely, omega-3 deficiency can expose you to a greater risk of these age-related diseases. Omega-3 fatty acids are ... Read the evidence below to learn more about the pitfalls of omega-3 deficiency. Omega-3 fatty acids for age-related diseases. ... age-related diseases aging badhealth beatdepression breast cancer cancer causes depression symptoms Fish Oil heart disease ... Omega-3 deficiency linked to common age-related illnesses such as cancer, depression and heart disease ...

https://naturalnews.com/2021-08-24-omega-3-deficiency-linked-to-common-age-related-illnesses.html

... In: PLOS ONE 4(8), e6629 ... During late disease stages, the disease-specific neuropathological features revealed by ubiquitin- and P(S129)-alpha-synuclein- ... In synucleinopathies, including Parkinsons disease, partially ubiquitylated alpha-synuclein species phosphorylated on serine ... protects against alpha-synuclein-mediated toxicity in various models.We analyzed the effects of Parkin deficiency in a mouse ...

https://epub.ub.uni-muenchen.de/15405/

Find symptoms and other information about Complement component deficiency. ... About Complement component deficiency. Many rare diseases have limited information. Currently GARD aims to provide the ... People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as ... People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as ...

https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency

Novelty seeking and harm avoidance in Parkinsons disease: effects of asymmetric dopamine deficiency ... Novelty seeking and harm avoidance in Parkinsons disease: effects of asymmetric dopamine deficiency ... Objectives: Although changes in novelty seeking and harm avoidance have been reported among patients with Parkinsons disease ( ... Novelty seeking was not associated with disease duration, current motor symptoms, or medication, whereas harm avoidance was ...

https://jnnp.bmj.com/content/75/7/972.short

https://adc.bmj.com/content/65/5/561.2.citation-tools

... The initial screen for celiac is a blood test. ... Vitamin deficiencies may be the only sign of celiac disease. July 4, 2019 in Allergies & Intolerances, Gastrointestinal Health ... Adults with undiagnosed celiac disease often have nutrient deficiencies as the only sign of the condition, say researchers from ... If they see nutritional deficiencies, they should start thinking about celiac disease. ...

https://lesliebeck.com/articles/2019/07/04/vitamin-deficiencies-may-be-the-only-sign-of-celiac-disease

... s disease and relationships to clinical disease severity. This case control study found not significant but higher 25-OH- ... vitamin D plasma levels in patients with Parkinson’s disease patients compared... ... Kheiri B, Abdalla A, Osman M, Ahmed S, Hassan M, Bachuwa G (2018) Vitamin D deficiency and risk of cardiovascular diseases: a ... Evatt ML (2014) Parkinson disease: Low vitamin D and Parkinson disease--a causal conundrum. Nat Rev Neurol 10: 8-9 ...

https://www.researchsquare.com/article/rs-1128183/v1

... acquired immune deficiency syndrome (AIDS), gonorrhea, and syphilis, in the 31 provinces of mainland China. MATERIAL AND ... This study aimed to investigate trends in the epidemiology of the leading sexually transmitted diseases (STDs), ... Trends in the Epidemiology of Sexually Transmitted Disease, Acquired Immune Deficiency Syndrome (AIDS), Gonorrhea, and Syphilis ... BACKGROUND: This study aimed to investigate trends in the epidemiology of the leading sexually transmitted diseases (STDs), ...

https://medscimonit.com/abstract/index/idArt/915732

Learn about diagnosis and specialist referrals for Classic glucose transporter type 1 deficiency syndrome. ... De Vivo disease; Encephalopathy due to GLUT1 deficiencyClassic GLUT1 deficiency syndrome; Classic GLUT1-DS; De Vivo disease; ... Living With the Disease. Find resources for patients and caregivers that address the challenges of living with a rare disease. ... The National Library of Medicines Unified Medical Language System (UMLS) is used to classify and organize diseases and disease ...

https://rarediseases.info.nih.gov/diseases/9265/classic-glucose-transporter-type-1-deficiency-syndrome/diagnosis/

Resection of the tumor resulted in complete resolution of iron-deficiency anemia and inflammatory syndrome. (nih.gov)
Although further study is required to determine if DOCK8 mutations occur in other people with similar disease symptoms, DOCK8 immunodeficiency syndrome may be a new PIDD. (nih.gov)
In late-onset Tarui disease, the myopathic syndrome results from a mutation of the M subunit distinct from those that cause classic Tarui disease. (medscape.com)
A high ratio of omega-6 to omega-3 is associated with an increased risk of various health issues , including increased heart disease risk factors, metabolic syndrome, obesity and inflammation. (naturalnews.com)
Do you have information about a disease, disorder, or syndrome? (rareguru.com)
The theory of ECS deficiency syndrome is that "all humans have an underlying endocannabinoid tone that is a reflection of … the relative abundance and state of cannabinoid receptors … and in certain conditions … the endocannabinoid tone becomes deficient and productive of pathophysiological syndromes" (Russo, 2016, p.154). (hytiva.com)
SURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). (biomedcentral.com)
Leukocyte adhesion deficiency type I (LAD-I), a disease syndrome associated with frequent microbial infections , is caused by mutations on the CD18 subunit of ß2 integrins . (bvsalud.org)

Recent reports suggest that patients with glycogen-storage disease type 0 present with symptoms that range from asymptomatic hyperglycemia to recurrent hypoglycemic seizures. (medscape.com)
The study of inherited disorders and the genetic alterations that are responsible for their complex array of disease symptoms has often resulted in the discovery of causative genes that play a role in cancer initiation," said NCI Director John E. Niederhuber, M.D. "The disease mutations found in this study in the DOCK8 gene exemplify that kind of important finding. (nih.gov)
What are the symptoms of phosphoglycerate mutase deficiency? (mda.org)
VITAMIN B12 deficiency symptoms can affect nearly every part of the body. (express.co.uk)
It is imperative to spot potential symptoms to help eradicate this deficiency before it is too late. (express.co.uk)
Symptoms of classic Tarui disease include exercise intolerance, fatigue, and myoglobinuria. (medscape.com)
Patients with the hemolytic form of Tarui disease do not present with muscle symptoms but rather exhibit nonspherocytic hemolytic anemia. (medscape.com)
Iodine deficiency can cause sluggishness, weight gain, and other symptoms of hypothyroidism, and in extreme cases a goiter may occur (enlarged thyroid). (holtorfmed.com)
Synaptic loss is intrinsically linked to Alzheimer's disease (AD) neuropathology and symptoms, but its direct impact on clinical symptoms remains elusive. (jneurosci.org)
We thus sought to determine whether a SHANK3 deficiency could contribute to the emergence or worsening of AD symptoms and neuropathology. (jneurosci.org)
SIGNIFICANCE STATEMENT Although the loss of several synaptic proteins has been described in Alzheimer's disease (AD), it remains unclear whether their reduction contributes to clinical symptoms. (jneurosci.org)
When Do Symptoms of Complement component deficiency Begin? (nih.gov)
Novelty seeking was not associated with disease duration, current motor symptoms, or medication, whereas harm avoidance was significantly correlated only with the severity of bradykinesia and depression. (bmj.com)
Scoring of PD symptoms with the Unified Parkinson's Disease rating scale (Fahn et al. (researchsquare.com)
In some affected individuals, signs and symptoms of arginase deficiency may be less severe, and may not appear until later in life. (medlineplus.gov)
The accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency. (medlineplus.gov)
Protein deficiency causes kwashiorkor disease and It has symptoms of Large pot - like belly, Stunted growth, Swelling in the face and limbs, Skin diseases, Mental retardation, and Diarrhea. (whrsa.com)
In fact, the European Society of Cardiology's recent clinical guidelines on HF suggest that in symptomatic patients with reduced ejection fraction and iron deficiency, treatment with IV ferric carboxymaltose should be considered to improve symptoms, the ability to exercise and quality of life. (revistanefrologia.com)
When there is a deficiency of Vitamin B12 in the body, its symptoms are not recognized in the initial stages. (ayurvedgyansagar.com)
This happens to be the most widespread nutritional deficiency worldwide and can lead to a variety of symptoms such as anemia , fatigue , weakness , pale skin and less available oxygen to tissues and organs. (nutrispray.co.in)
Symptoms of niacin deficiency include diarrhea , dementia, and skin disorders. (nutrispray.co.in)
Vitamin B-12 is responsible for assisting the body in making enough healthy red blood cells the deficiency of which can lead to symptoms such as fatigue, weakness, dizziness,shortness of breath, swollen tongue and pale skin. (nutrispray.co.in)

Vitamin D deficiency is highly prevalent in patients with chronic kidney disease (CKD), and nutritional vitamin D supplementation decreases elevated parathyroid hormone concentrations in subgroups of these patients. (unboundmedicine.com)
If they see nutritional deficiencies, they should start thinking about celiac disease. (lesliebeck.com)
The nature and extent of nutritional deficiencies in the Peruvian Andes / Marco A. Ferroni. (who.int)
given the consequences of nutritional deficiencies on our health and wellbeing. (nutrispray.co.in)
What leads to a nutritional deficiency? (nutrispray.co.in)
A nutritional deficiency occurs when the body doesn't absorb or get the necessary amount of a nutrient from food. (nutrispray.co.in)
Some of these are in abundance in the fresh source of food while some such as cereals, bread, and milk need to be fortified with nutrients that are needed to prevent nutritional deficiency. (nutrispray.co.in)
and (c) severe nutritional consequences that are likely to aggravate infectious diseases such as acute respiratory infections, diarrhoea and malaria. (who.int)
4. Over the past decade, the international community has intensified actions to fight against all these nutritional deficiencies. (who.int)
Consequently, different nutritional deficiency-related diseases are affecting millions of infants and young children. (who.int)

Iodine deficiency impairs physical growth, causes goiter, and decreases the chances of survival of children. (whrsa.com)
Iodine deficiency is the most common cause of preventable mental retardation and brain damage in the world. (whrsa.com)
The goiter is an iodine deficiency disease. (whrsa.com)
Cause, Iodine deficiency cause goiter. (whrsa.com)
Iodine uptake is a main factor affecting thyroid disease. (who.int)
This study in 2009 determined the prevalence of thyroid diseases in older people in Mamak district, Ankara after iodization to ascertain if salt iodization alone is sufficient to reach adequate iodine levels in the older population. (who.int)
According to the World Health Organization (WHO), International Council for Control of Iodine Deficiency Disorders, the daily iodine intake should be 150-200 μg for adults with a median iodine excretion of (who.int)
While thyroid volume and nodularity are high in iodine-deficient regions, autoimmune thyroid diseases and follicular thyroid carcinomas are more common in regions with excessive iodine intake (5). (who.int)

Having a vitamin B12 deficiency can increase your risk of a severe form of gum disease called periodontitis. (express.co.uk)
Researchers are still unsure of exactly why a vitamin B12 deficiency increases the risk of the mouth condition. (express.co.uk)
Pregnancy, lactating women can also lead to vitamin B12 deficiency. (ayurvedgyansagar.com)
Do you know what happens due to Vitamin B12 deficiency? (ayurvedgyansagar.com)
If a person is deficient in Vitamin B12, then which disease can happen? (ayurvedgyansagar.com)
What are the main causes of Vitamin B12 deficiency? (ayurvedgyansagar.com)
Inadequate intake of vitamin B12-rich foods can also lead to its deficiency. (ayurvedgyansagar.com)
Therefore, if people who eat vegetarian food do not consume enough vitamin B12-rich diet, then there is a possibility of its deficiency. (ayurvedgyansagar.com)
Due to deficiency of Vitamin B12, pregnant women often struggle with many health-related problems. (ayurvedgyansagar.com)
If you start feeling that you are having problems related to eyesight, then immediately contact the doctor, because due to deficiency of vitamin B12, there are also disorders related to the eyes. (ayurvedgyansagar.com)
Physical weakness and fatigue are signs of vitamin B12 deficiency. (ayurvedgyansagar.com)
Due to deficiency of Vitamin B12, there is loss of appetite and problems like constipation can also be faced. (ayurvedgyansagar.com)
What are the diseases caused by deficiency of Vitamin B12? (ayurvedgyansagar.com)
Vitamin B12 deficiency can cause many diseases. (ayurvedgyansagar.com)
One of the many serious diseases caused by vitamin B12 is anemia. (ayurvedgyansagar.com)
In fact, vitamin B12 deficiency can significantly damage brain function, leading to a variety of mental illnesses. (ayurvedgyansagar.com)
This disease can also be caused due to deficiency of Vitamin B12, but it is often seen that people often do not take such mental illness seriously, which can cause great harm to the patient. (ayurvedgyansagar.com)

Protein-energy malnutrition (PEM) - Malnutrition includes both protein-energy malnutrition (PEM) and micronutrient deficiencies. (whrsa.com)

In synucleinopathies, including Parkinson's disease, partially ubiquitylated alpha-synuclein species phosphorylated on serine 129 (P(S129)-alpha-synuclein) accumulate abnormally. (uni-muenchen.de)

Chronic kidney disease and anaemia are common in heart failure (HF) and are associated with a worse prognosis in these patients. (revistanefrologia.com)

Multiple common preventable maintenance deficiencies were identified in association with disease outbreaks, highlighting the importance of comprehensive water management programs for water systems in buildings. (cdc.gov)
Here evidence implicating omega-3 (n-3) fatty acid deficiency in the pathoaetiology of CHD and MDD is reviewed, and the hypothesis that n-3 fatty acid deficiency is a preventable risk factor for CHD comorbidity in MDD patients is evaluated. (hindawi.com)
A rapidly emerging body of evidence suggests that membrane omega-3 (n-3) fatty acid deficiency is a preventable risk factor for both CHD [ 18 ] and MDD [ 19 ]. (hindawi.com)

No complete congenital deficiency of CR1 has been reported. (medscape.com)

You may also have diarrhea-related gastrointestinal loss, or poor intake of nutrients caused by disease-related anorexia. (webmd.com)
A lack of proper nutrients can complicate the progress of your disease treatment. (webmd.com)
Diseases that are caused due to the lack of nutrients like proteins, carbohydrates, vitamins, or minerals, in the diet are called deficiency diseases. (whrsa.com)
This may be due to faulty eating habits which include consuming junk which lacks the required nutrients or being already afflicted with a disease that leads to improper absorption of vitamins and minerals. (nutrispray.co.in)

For hereditary methemoglobinemias, reduced enzyme activity is seen with NADH-methemoglobin reductase deficiency, but normal in HbM disease. (cdc.gov)

Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y. The variable clinical phenotype of liver glycogen synthase deficiency. (medscape.com)
Clinical history defines the 4 subtypes of Tarui disease, which include classic, infantile onset, late onset, and a hemolytic form. (medscape.com)
however, the brain and heart express predominantly the M isoform, and their lack of clinical involvement in most reported cases of classic Tarui disease is not easily explained. (medscape.com)
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. (nih.gov)
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. (nih.gov)
People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. (nih.gov)
Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location. (nih.gov)
Previous trials describe a decrease of vitamin D levels in patients with Parkinson's disease and relationships to clinical disease severity. (researchsquare.com)
This case control study found not significant but higher 25-OH-vitamin D plasma levels in patients with Parkinson's disease patients compared with age and sex matched controls and no associations to clinical parameters, such as rating scores of disease severity or assessments of cognitive function. (researchsquare.com)
Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. (medlineplus.gov)
It may sound like a cliché, but more evidence is needed to better understand the clinical efficacy of replenishing naturally occurring endocannabinoids to fight multiple chronic diseases. (hytiva.com)
Due to their clinical and genetic heterogeneity, mitochondrial diseases are often a diagnostic challenge. (biomedcentral.com)
The disease features of SURF1 deficiency are not widely recognized by paediatricians and a clear understanding of the clinical continuum of the disease is important to improve diagnosis of this condition. (biomedcentral.com)
We sought to characterise the phenotypic and genotypic spectrum of SURF1 deficiency, to provide survival data in a large cohort, and highlight clinical predictors of longer survival. (biomedcentral.com)
While the treatment of anaemia with erythropoiesis-stimulating agents in patients with HF have failed to show a benefit in terms of morbidity and mortality, treatment with IV iron in patients with HF and reduced ejection fraction and iron deficiency is associated with clinical improvement. (revistanefrologia.com)
In a post hoc analysis of a clinical trial, iron therapy improved kidney function in patients with HF and iron deficiency. (revistanefrologia.com)
Dr. Morris is the clinical disease team lead for the health systems and worker safety task force for the CDC COVID-19 response. (cdc.gov)
Dr. Sircar is an epidemiologist on the clinical disease team for the CDC COVID-19 response. (cdc.gov)
The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc) deficiency continues to pose challenges both in diagnostics and disease monitoring. (lu.se)

NIH clinicians have cared for people with unusual and difficult-to-treat immune disorders for decades," says NIAID Director Anthony S. Fauci, M.D. "This study exemplifies their commitment to improving the lives of people with these diseases by trying to uncover the causes of these disorders and thereby better understanding how to treat them. (nih.gov)
Other risk factors for deficiency include darker skin, not having much skin exposed when spending time outdoors, and history of a digestive disorders (leading to fat malabsorption). (holtorfmed.com)
Studies show that these fatty acids can help prevent heart disease, heart attack and cancer, and help treat mood disorders like depression. (naturalnews.com)
Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. (medlineplus.gov)
Acquired forms of CR1 deficiency have been associated with autoimmune disorders, such as systemic lupus erythematosus , hemodialysis in patients with diabetic nephropathy, and preeclampsia . (medscape.com)
Skin diseases or disorders represented 13% (approximately 58,000 cases) of work-related illnesses recorded in SOII in 1997. (cdc.gov)
Dermatitis, a subcategory of skin diseases or disorders, resulted in more than 6,500 cases with time away from work. (cdc.gov)

Anemia is one of the most common complications of Crohn's, affecting about 70% of people with the disease. (webmd.com)
In addition to occasional autoimmune hemolytic anemia, unexplained iron-deficiency anemia has been reported in childhood Castleman disease (CD). (nih.gov)
With chronic overproduction of IL-6 as a hallmark, CD could be an interesting human model for studying the contribution of the IL-6/hepcidin pathway in the pathogenesis of anemia of chronic disease. (nih.gov)
The results of this unique case study (1) explain the mechanism of iron deficiency observed in some children with CD, (2) confirm in vivo the regulatory effect of IL-6 in human hepcidin production, and (3) suggest that iron deficiency is a causal link between IL-6 and anemia of chronic disease. (nih.gov)
Deficiency of iron results in anemia among and pregnant women. (whrsa.com)
Iron deficiency anemia is when your body's not getting enough iron, so your hemoglobin levels are low in your blood. (gallbladderdiet.com)
So- can iron deficiency anemia really cause gallstones? (gallbladderdiet.com)
Raquel Ojeda López a , José María Portolés Pérez d , e , en representación del Grupo de Anemia de la S.E.N. (revistanefrologia.com)
La enfermedad renal crónica y la anemia son frecuentes en la insuficiencia cardíaca (IC) y su presencia se asocia con un peor pronóstico en estos pacientes. (revistanefrologia.com)
La ferropenia es frecuente en pacientes con IC y aumenta el riesgo de morbimortalidad, independientemente de la presencia o no de anemia. (revistanefrologia.com)
Mientras el tratamiento de la anemia con agentes estimuladores de la eritropoyesis en pacientes con IC no ha demostrado un beneficio sobre la morbimortalidad, el tratamiento con hierro intravenoso (iv) en pacientes con IC y fracción de eyección disminuida y déficit de hierro se asocia con una mejoría clínica. (revistanefrologia.com)
Pyridoxine-deficient patients develop anemia with microcytic-hypochromic RBCs that can simulate chronic iron deficiency. (med-life.net)
The usual signals of iron deficiency are a decreased MCV (or anemia with a low-normal MCV) or elevated RDW. (med-life.net)
Conditions frequently associated with chronic iron deficiency (e.g., malabsorption, megaloblastic anemia, pregnancy, infants on prolonged milk feeding) should also prompt further investigation. (med-life.net)

Since many people don't get regular blood tests, they need to be attuned to the symptom of iron deficiency: fatigue. (lesliebeck.com)
This paper examines a hallmark symptom of Parkinson's disease, bradykinesia, aiming to elucidate its underlying causes, and emphasizing abnormal behavioral computations mediating motor impairment. (medscape.com)

Unlike other forms of glycogen-storage disease, glycogen-storage disease type 0 does not involve the storage of excessive or abnormal glycogen and is characterized by moderately decreased glycogen stores in the liver. (medscape.com)
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (medscape.com)
Parallel variations of plasma IL-6, C-reactive protein, and hepcidin concentrations, together with tumor immunohistochemistry, strongly suggested that IL-6 synthesized by the tumor caused both the inflammation and iron deficiency through enhancement of hepcidin production by the liver. (nih.gov)
Iron deficiency in patients with nonalcoholic Fatty liver disease is associated with obesity, female gender, and low serum hepcidin. (arctichealth.org)
We examine the relationship between obesity, circulating levels of hepcidin, and IL6 and IL1ß, and other risk factors in patients with nonalcoholic fatty liver disease (NAFLD) with iron deficiency. (arctichealth.org)
Hyperargininemia due to liver arginase deficiency. (medlineplus.gov)
Iron deficiency can alter liver enzymes which increases gallbladder cholesterol saturation. (gallbladderdiet.com)

In this episode, you will learn about Thiamine Deficiency Disease. (betterhealthguy.com)
She is the co-author of the book "Thiamine Deficiency Disease, Dysautonomia, and High Calorie Malnutrition" and the author of over 200 articles on various topics, from women's health and hormones, medication reactions, to mitochondrial function and dysfunction. (betterhealthguy.com)
How common is thiamine deficiency? (betterhealthguy.com)
What is the ideal way to test for thiamine deficiency? (betterhealthguy.com)
What is the connection between thiamine deficiency and dysautonomia? (betterhealthguy.com)
What is the connection between elevated levels of lactic acid and thiamine deficiency? (betterhealthguy.com)
Could glyphosate lead to large-scale thiamine deficiency? (betterhealthguy.com)
Today's guest is Dr. Chandler Marrs, and the topic of the show is Thiamine Deficiency Disease. (betterhealthguy.com)
The topic of thiamine deficiency disease is one that was brought to my attention by Dr. Neil Nathan. (betterhealthguy.com)

No sexual predilection is observed because the deficiency of glycogen synthetase activity is inherited as an autosomal recessive trait. (medscape.com)
Huntington disease (HD), an autosomal dominant, progressive neurodegenerative disorder, is caused by an expanded CAG repeat sequence leading to an increase in the number of glutamine residues in the encoded protein 1 . (nature.com)
Parkin, an ubiquitin-protein ligase that is dysfunctional in autosomal recessive parkinsonism, protects against alpha-synuclein-mediated toxicity in various models.We analyzed the effects of Parkin deficiency in a mouse model of synucleinopathy to explore the possibility that Parkin and alpha-synuclein act in the same biochemical pathway. (uni-muenchen.de)

Iron deficiency is often observed in obese individuals. (arctichealth.org)
Gallbladder Disease and Iron Deficiency: How Are They Related? (gallbladderdiet.com)
Do gallbladder problems relate to iron deficiency? (gallbladderdiet.com)
It's known that many people with gallbladder disease, or without a gallbladder, are anemic and need to take iron supplements. (gallbladderdiet.com)
So- let's take a deeper dive into why gallbladder disease and iron deficiency are correlated. (gallbladderdiet.com)
Then, we'll discuss how we can best manage iron deficiency through a balanced diet. (gallbladderdiet.com)
Intestinal and digestive conditions, like celiac disease, Crohn's disease, ulcerative colitis, and Helicobacter pylori infection can decrease the body's ability to absorb iron properly. (gallbladderdiet.com)
What's the Relationship Between Iron Deficiency and Gallbladder Disease? (gallbladderdiet.com)
Here's some research that explains the connection between iron deficiency and gallbladder disease. (gallbladderdiet.com)
Deficiency in both iron and calcium is associated with increased super-saturation of bile in the gallbladder. (gallbladderdiet.com)
Iron deficiency is also common in patients with HF and increases the risk of morbidity and mortality, regardless of the presence or absence of anaemia. (revistanefrologia.com)
Several laboratory tests are commonly used to screen for or establish a diagnosis of chronic iron deficiency. (med-life.net)
Iron deficiency may be produced in three ways: (1) iron intake not sufficient to replace normal iron losses, (2) iron not available for erythropoiesis despite adequate body iron, and (3) increased loss of body iron (blood loss) not adequately replaced by normal intake. (med-life.net)

Lesch-Nyhan disease (LND) is a rare, X-linked genetic disorder that involves the nearly complete absence of an enzyme (hypoxanthine-guanine phosphoribosyltransferase, or HPRT) that is essential for purine salvage. (cambridge.org)
Sucraid ® (sacrosidase) Oral Solution is an enzyme replacement therapy for the treatment of genetically determined sucrase deficiency, which is part of Congenital Sucrase-Isomaltase Deficiency (CSID). (csiddiseaseinfo.com)

Calcium is important for your body in every stage of life and a deficiency of the same leads to serious health issues with time. (nutrispray.co.in)
Correction to: Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. (medscape.com)

Another disease that occurs due to prolonged protein-energy malnutrition is marasmus. (whrsa.com)
Protein deficiency along with carbohydrates is called protein-energy malnutrition (PEM). (whrsa.com)

Of the 8 plasma membrane receptors for complement, only deficiencies of CR3 and CR4 due to CD18 deficiency have been described, known as leukocyte adhesion deficiency (LAD) type 1 . (medscape.com)

In this disease enlargement of the thyroid gland, mental retardation, retarded growth. (whrsa.com)

Centers for Disease Control and Prevention. (cdc.gov)

Mutations in the ARG1 gene cause arginase deficiency. (medlineplus.gov)
Restoring neuronal chloride extrusion reverses cognitive decline linked to Alzheimer's disease mutations. (medscape.com)

The number of reported cases of Legionnaires' disease, a severe pneumonia caused by the bacterium Legionella , is increasing in the United States. (cdc.gov)
Legionnaires' disease, a severe, sometimes fatal pneumonia, can occur in persons who inhale aerosolized droplets of water contaminated with the bacterium Legionella . (cdc.gov)
Even though these individuals were diagnosed with a more uncommon form of HIES, they were still considered to have a mystery disease, because they had severe allergies and had developed cancers," says Dr. Su. (nih.gov)

More than half of people with this and other types of inflammatory bowel disease (IBD) don't get the right amount of essential vitamins and minerals, known as micronutrients. (webmd.com)

Major depression disorder (MDD) significantly increases the risk for coronary heart disease (CHD) which is a leading cause of mortality in patients with MDD. (hindawi.com)

The NHANES program suspended field operations in March 2020 due to the coronavirus disease 2019 (COVID-19) pandemic. (cdc.gov)

Your care team should check you regularly for any signs of vitamin and mineral deficiencies to improve your quality of life. (webmd.com)

The deficiency of SNHG3 alleviated neuronal injury by restraining inflammatory responses through targeting miR-139-5p. (minervamedica.it)

In a 2019 review, researchers found that people who took omega-3 fish oil supplements had a lower risk of heart attack, death from coronary heart disease and other cardiovascular events than those who took a placebo. (naturalnews.com)
Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. (nih.gov)
Adults with undiagnosed celiac disease often have nutrient deficiencies as the only sign of the condition, say researchers from the Mayo Clinic in Rochester, Minnesota. (lesliebeck.com)
The researchers suspect that as many as 50 percent of adults with celiac disease go undiagnosed either because they don't have weight loss and other signs thought to be typical of the disease or because they've put themselves on a gluten-free diet, which can result in a false-negative blood test. (lesliebeck.com)
Our understanding of the relationship between chronic diseases and the endocannabinoid system or endogenous cannabinoid system (ECS) is evolving and one that is fascinating researchers. (hytiva.com)

In 1965, he described the first patient with isolated pancreatic trypsinogen deficiency, an inborn error of metabolism, that became known as trypsinogen deficiency disease. (wikipedia.org)
This inborn error of metabolism, resulting in failure to thrive, became known as trypsinogen deficiency disease. (wikipedia.org)

Late-onset sporadic Alzheimer's disease (AD) is the most prevalent form of dementia, but its origin remains poorly understood. (nih.gov)
The potential of blood neurofilament light as a marker of neurodegeneration for Alzheimer's disease. (medscape.com)

Although changes in novelty seeking and harm avoidance have been reported among patients with Parkinson's disease (PD), the findings regarding the neurochemical correlates of such changes are inconsistent. (bmj.com)
These outcomes put into perspective the emerging discussion on the importance of vitamin D in patients with Parkinson's disease. (researchsquare.com)
We stress that this case control study does not allow any comment on the putative beneficial effects of vitamin D supplementation, i.e. on bone mass or bone mineral density in patients with Parkinson's disease. (researchsquare.com)
Many studies investigated associations between Parkinson's disease (PD) and vitamin D status (Lv et al. (researchsquare.com)
This review summarizes the physiological and pathological roles of alpha-synuclein and its implication in Parkinson's disease pathogenesis. (medscape.com)
Might dopamine release deficits prior to neurodegeneration be a pathophysiological hallmark of Parkinson's disease? (medscape.com)
Investigating cortico-striatal beta oscillations in Parkinson's disease cognitive decline. (medscape.com)
How should we be using biomarkers in trials of disease modification in Parkinson's disease? (medscape.com)
The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease. (medscape.com)
PTPA variants and the risk for Parkinson's disease in diverse ancestry populations. (medscape.com)

These global trends suggest that the prevalence rates of MDD and coronary heart disease (CHD) are increasing in parallel, and emerging data suggest a high degree of symptomatic comorbidity. (hindawi.com)
The prevalence of celiac disease in Benghazi necessitates research on the level of vitamin D in celiac patients in pediatric hospitals. (scholarsresearchlibrary.com)

Vitamin A deficiency is a cause of mortality among children. (whrsa.com)

Most people with Crohn's disease have weight loss and malnutrition at some point. (webmd.com)

Neuromuscular disease genetics in underrepresented populations: increasing data diversity. (medscape.com)

Since autoimmunity is associated with an imbalance between the two parts of our immune system known as Th-1 (cell-mediated) and Th-2 (humoral), it makes sense that vitamin D deficiency has been found to be more prevalent among those with autoimmune thyroid conditions compared to healthy individuals. (holtorfmed.com)

MBL deficiency manifests as increased susceptibility to polysaccharide-encapsulated bacteria, with subsequent recurrent respiratory tract infections, abscesses, sepsis , and meningitis. (medscape.com)
Deficiency of vitamin A disease caused such as Xerophthalmia and night blindness, weakening of the immune system, respiratory and gastrointestinal infection. (whrsa.com)
Other public and private programs describe toxic exposures, pesticide poisonings, X-rays of working underground coal miners, infections in health care workers, and self-reported respiratory diseases among nonsmokers by industry. (cdc.gov)

These findings mean that individuals with this rare disease will be able to receive a more accurate diagnosis. (nih.gov)
If that comes back positive then the individual needs to be referred to a gastroenterologist who will confirm the diagnosis of celiac disease by taking a small bowel biopsy. (lesliebeck.com)
The process of getting a rare disease diagnosis can take several years. (nih.gov)

Doctors often look for typical signs like unexplained weight loss or diarrhea, but the hallmark signal of celiac disease may be low levels of vitamins and other micronutrients due to poor nutrient absorption in the small intestine. (lesliebeck.com)
The research team looked at 309 adults newly diagnosed with celiac disease between 2000 and 2014. (lesliebeck.com)
Celiac disease is an immune-mediated enteropathy that affects people who are genetically vulnerable to wheat gluten and related proteins present in rye and barely. (scholarsresearchlibrary.com)
Celiac disease is a widespread chronic illness that affects between 0.5% and 1% of the global population in several countries with female predominance. (scholarsresearchlibrary.com)
Celiac disease is a genetic condition that is passed down from parents to their children. (scholarsresearchlibrary.com)
People who have a first-degree family (parent, child, or sibling) who has celiac disease have a one-in-ten chance of having celiac disease. (scholarsresearchlibrary.com)
Celiac disease, if left untreated, can lead to a slew of other major health issues [ 2 ]. (scholarsresearchlibrary.com)
Children with celiac disease are at an increased risk of developing vitamin D deficiency. (scholarsresearchlibrary.com)
The present study aimed to investigate the level of serum 25(OH) D in patients with celiac disease in a pediatric hospital in Benghazi. (scholarsresearchlibrary.com)
Prospective study- Cross-sectional research design was used to collect the data from randomly selected cases of celiac disease, after Ethics Committee approval. (scholarsresearchlibrary.com)

In 1965, Tarui presented the first description of phosphofructokinase (PFK) deficiency in 3 adult siblings (born to consanguineous parents) with exercise intolerance and easy fatigability. (medscape.com)

citation needed] In 1965, Townes described the first patient with isolated trypsinogen deficiency with secondary lack of activation of chymotrypsin and procarboxypeptidase. (wikipedia.org)

One such disease is dementia. (ayurvedgyansagar.com)
Dementia, depression and memory loss are a result of long term deficiency. (nutrispray.co.in)

Persons most likely to get Legionnaires' disease are those aged ≥50 years, smokers, and persons with underlying medical conditions, such as chronic lung disease or weakened immune systems. (cdc.gov)
Combined immunodeficiency is a type of primary immune deficiency disease (PIDD) in which several parts of the immune system are affected. (nih.gov)
Identifying a genetic cause for the disease provided comfort to some of those diagnosed who had battled an unknown immune disease for years, according to Dr. Su. (nih.gov)
In an attempt to control infection, masses of neutrophils and other immune cells continue to gather at the site of infection, forming large groups of these cells called granulomas, hence the name of the disease. (primaryimmune.org)
Crucial for eye health and reproductive functioning in men and women, a deficiency of this vitamin compromises the immune system of the body and can seriously affect eyesight. (nutrispray.co.in)
or an altered immune status as a result of other diseases or immunosuppressive therapy are at increased risk for paralysis associated with OPV. (cdc.gov)

Other studies also support taking omega-3 fatty acids to prevent cardiovascular disease and cancer. (naturalnews.com)

Furthermore, vitamin D is supposed to have pleiotropic effects on various diseases such as cardiovascular diseases, malignancies, infectious diseases, diabetes, and autoimmune diseases. (unboundmedicine.com)
Low vitamin D levels have been reported to increase the risk of autoimmune diseases in addition to rickets and osteomalacia. (scholarsresearchlibrary.com)

The team that made the discovery was led by Helen Su, M.D., Ph.D., at the National Institute of Allergy and Infectious Diseases (NIAID), and included collaborators from NIAID and the National Cancer Institute (NCI). (nih.gov)
COVID-19 is making headlines across the globe for causing a breakout of an infectious disease caused by a newly discovered coronavirus. (progenmethod.com)

Diagnostic accuracy of serological checks for covid-19: systematic evaluate and meta-analysis Goal: To find out the diagnostic accuracy of serological checks for coronavirus disease-2019 (covid-19). (cpc-net.com)

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. (nature.com)
Inactivation of the mouse Huntington's disease gene homolog hdh . (nature.com)
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. (nature.com)
In contrast to individuals with classic Tarui disease, who express only the L4 type isozyme in red blood cells, individuals with late-onset Tarui disease showed the presence of a few hybrid isozymes of M+L with the predominant L4 species, suggesting a "leaky" mutation of the gene coding the M subunit. (medscape.com)
Gene expression in a Drosophila model of mitochondrial disease. (cabd.es)

Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. (nature.com)
Trottier, Y., Biancalana, V. & Mandel, J.L. Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset. (nature.com)
The disease has its onset anywhere from childhood to early adulthood and progresses slowly, if at all. (mda.org)
Patients with late-onset Tarui disease may present in adulthood with progressive muscle weakness. (medscape.com)
To evaluate the hypothesis that n-3 fatty acid deficiency is a risk factor for CHD morbidity and mortality in MDD, it is important to consider that the age at onset for unipolar and bipolar depression peaks in young adulthood (15-19 years) [ 24 , 25 ], whereas CHD mortality peaks substantially later (75-84 years) [ 26 ]. (hindawi.com)

Some common medicines you take to treat Crohn's disease can interfere with nutrient absorption. (webmd.com)

Some of the research on selenium has found that supplementation may help lower thyroid antibodies in those with Graves' Disease and Hashimoto's thyroiditis. (holtorfmed.com)

Glycogen-storage disease type 0 (GSD-0), or glycogen synthetase deficiency, commonly appears in infancy and early childhood with fasting hypoglycemia accompanied by ketosis and low normal reference range blood levels of lactate and alanine. (medscape.com)
In patients with glycogen-storage disease type 0, fasting hypoglycemia occurs within a few hours after a meal because of the limited stores of hepatic glycogen and inadequate gluconeogenesis to maintain normoglycemia. (medscape.com)
The overall frequency of glycogen-storage disease is approximately 1 case per 20,000-25,000 people. (medscape.com)
Glycogen-storage disease type 0 is a rare form, representing less than 1% of all cases. (medscape.com)
The identification of asymptomatic and oligosymptomatic siblings in several glycogen-storage disease type 0 families has suggested that glycogen-storage disease type 0 is underdiagnosed. (medscape.com)
Glycogen-storage disease type 0 is most commonly diagnosed during infancy and early childhood. (medscape.com)
Stone WL, Basit H, Adil A. Glycogen Storage Disease. (medscape.com)
Type 0 Glycogen Storage Disease. (medscape.com)
Association for Glycogen Storage Disease. (medscape.com)
Tarui disease (ie, glycogen-storage disease type VII) has since been described in more than 100 patients worldwide. (medscape.com)
Tarui disease is the least common glycogen-storage disease. (medscape.com)

Organisms1

Diseases25

Chemicals and Drugs1

Perspectives from micronutrient malnutrition elimination/eradication programmes. (1/430)

Candidate noninfectious disease conditions. (2/430)

Nitric oxide synthase inhibitor attenuates intestinal damage induced by zinc deficiency in rats. (3/430)

Decreased plasma membrane thiol concentration is associated with increased osmotic fragility of erythrocytes in zinc-deficient rats. (4/430)

Abnormalities of zinc and copper during total parenteral nutrition. (5/430)

Nutritionally induced anovulation in beef heifers: ovarian and endocrine function preceding cessation of ovulation. (6/430)

Effect of 6 months of GH treatment on myosin heavy chain composition in GH-deficient patients. (7/430)

Sonomorphologic evaluation of goiter in an iodine deficiency area in the Ivory Coast. (8/430)

Mannosidase Deficiency Diseases

Carbamoyl-Phosphate Synthase I Deficiency Disease

Immunologic Deficiency Syndromes

Multiple Sulfatase Deficiency Disease

Pyruvate Carboxylase Deficiency Disease

Pyruvate Dehydrogenase Complex Deficiency Disease

Deficiency Diseases

Ornithine Carbamoyltransferase Deficiency Disease

Vitamin A Deficiency

alpha 1-Antitrypsin Deficiency

Vitamin B 12 Deficiency

Vitamin D Deficiency

Folic Acid Deficiency

IgA Deficiency

Thiamine Deficiency

Glucosephosphate Dehydrogenase Deficiency

Magnesium Deficiency

Anemia, Iron-Deficiency

Vitamin E Deficiency

Ascorbic Acid Deficiency

Mice, Knockout

Protein C Deficiency

IgG Deficiency

Vitamin B 6 Deficiency

Factor V Deficiency

Iron

Riboflavin Deficiency

Perspectives from micronutrient malnutrition elimination/eradication programmes. (1/430)

Candidate noninfectious disease conditions. (2/430)

Nitric oxide synthase inhibitor attenuates intestinal damage induced by zinc deficiency in rats. (3/430)

Decreased plasma membrane thiol concentration is associated with increased osmotic fragility of erythrocytes in zinc-deficient rats. (4/430)

Abnormalities of zinc and copper during total parenteral nutrition. (5/430)

Nutritionally induced anovulation in beef heifers: ovarian and endocrine function preceding cessation of ovulation. (6/430)

Effect of 6 months of GH treatment on myosin heavy chain composition in GH-deficient patients. (7/430)

Sonomorphologic evaluation of goiter in an iodine deficiency area in the Ivory Coast. (8/430)

Philip L. Townes

Complement deficiency

Institutes of Agriculture, Bydgoszcz

Immune disorder

CDKL5 deficiency disorder

Motivational deficiency disorder

Dental health diets for dogs

Charles Albert Evans

Kinase

Galactosidases

PAS diastase stain

Anti-gliadin antibodies

Elongation factor

Thiamine

Pantothenic acid

Arthur Edmund Muskett

Vitamin

Michael Woodruff

Casimir Funk

Major facilitator superfamily

MECP2

TMEM211

Complement component 5

Kearns-Sayre syndrome

TPI1

Disease mongering

Zinc deficiency

Iron deficiency

Properdin deficiency

6-Pyruvoyltetrahydropterin synthase deficiency

Glycogen-Storage Disease Type 0 (GSD-0) (Glycogen Synthetase Deficiency): Background, Pathophysiology, Epidemiology

Vital Signs: Deficiencies in Environmental Control Identified in Outbreaks of Legionnaires' Disease - North America, 2000-2014 ...

Micronutrient Deficiencies and Crohn's Disease

Vitamin D Deficiency and Tuberculosis Progression - Volume 16, Number 5-May 2010 - Emerging Infectious Diseases journal - CDC

corticosterone methyloxidase deficiency 1 Disease Ontology Browser - DOID:0080626

Modeling Late-Onset Sporadic Alzheimer's Disease through BMI1 Deficiency

pyruvate carboxylase deficiency disease Disease Ontology Browser - DOID:3651

Iron-deficiency anemia in Castleman disease: implication of the interleukin 6/hepcidin pathway

Scientists Identify Genetic Cause of Previously Undefined Primary Immune Deficiency Disease | National Institutes of Health ...

Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice | Nature Genetics

Policy - ЗАКОН КЫРГЫЗСКОЙ РЕСПУБЛИКИ О профилактике йододефицитных заболеваний [Prophylactic of Iodine Deficiency Diseases] |...

PRIME PubMed | Prevalence and prognostic implications of vitamin D deficiency in chronic kidney disease

Phosphoglycerate mutase deficiency - Types of Metabolic Myopathies (MM) - Diseases | Muscular Dystrophy Association

Chronic granulomatous disease (CGD) and other phagocytic cell disorders | Immune Deficiency Foundation

Vitamin B12 deficiency: Symptoms may include gum disease which could lead to tooth loss | Express.co.uk