An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
A mitochondrial enzyme found in a wide variety of cells and tissues. It is the final enzyme in the 8-enzyme biosynthetic pathway of HEME. Ferrochelatase catalyzes ferrous insertion into protoporphyrin IX to form protoheme or heme. Deficiency in this enzyme results in ERYTHROPOIETIC PROTOPORPHYRIA.
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.
Porphyrins with four methyl, two vinyl, and two propionic acid side chains attached to the pyrrole rings. Protoporphyrin IX occurs in hemoglobin, myoglobin, and most of the cytochromes.
A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
An antifungal agent used in the treatment of TINEA infections.
A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. The porphyrins, in combination with iron, form the heme component in biologically significant compounds such as hemoglobin and myoglobin.
An enzyme of the transferase class that catalyzes condensation of the succinyl group from succinyl coenzyme A with glycine to form delta-aminolevulinate. It is a pyridoxyal phosphate protein and the reaction occurs in mitochondria as the first step of the heme biosynthetic pathway. The enzyme is a key regulatory enzyme in heme biosynthesis. In liver feedback is inhibited by heme. EC 2.3.1.37.
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
A nonimmunologic, chemically induced type of photosensitivity producing a sometimes vesiculating dermatitis. It results in hyperpigmentation and desquamation of the light-exposed areas of the skin.
A class of enzymes that catalyze the cleavage of C-C, C-O, and C-N, and other bonds by other means than by hydrolysis or oxidation. (Enzyme Nomenclature, 1992) EC 4.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Microscopy in which the image is formed by ultraviolet radiation and is displayed and recorded by means of photographic film.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Cytoplasmic hyaline inclusions in HEPATOCYTES. They are associated with ALCOHOLIC STEATOHEPATITIS and non-alcoholic STEATOHEPATITIS, but are also present in benign and malignant hepatocellular neoplasms, and metabolic, toxic, and chronic cholestatic LIVER DISEASES.
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)
Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)
The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.
'Lead poisoning' is a type of heavy metal toxicity caused by increased levels of lead in the body, typically resulting from exposure to lead-containing substances or environments, and potentially leading to neurological issues, anemia, and developmental delays, especially in children.
The senescence of RED BLOOD CELLS. Lacking the organelles that make protein synthesis possible, the mature erythrocyte is incapable of self-repair, reproduction, and carrying out certain functions performed by other cells. This limits the average life span of an erythrocyte to 120 days.
Pathological processes of the LIVER.
'Skin diseases' is a broad term for various conditions affecting the skin, including inflammatory disorders, infections, benign and malignant tumors, congenital abnormalities, and degenerative diseases, which can cause symptoms such as rashes, discoloration, eruptions, lesions, itching, or pain.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. (1/58)

Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of heme biosynthesis characterized by partial decrease in ferrochelatase (FECH; EC 4.99.1.1) activity with protoporphyrin overproduction and consequent painful skin photosensitivity and rarely liver disease. EPP is normally inherited in an autosomal dominant pattern with low clinical penetrance; the many different mutations that have been identified are restricted to one FECH allele, with the other one being free of any mutations. However, clinical manifestations of dominant EPP cannot be simply a matter of FECH haploinsufficiency, because patients have enzyme levels that are lower than the expected 50%. From RNA analysis in one family with dominant EPP, we recently suggested that clinical expression required coinheritance of a normal FECH allele with low expression and a mutant FECH allele. We now show that (1) coinheritance of a FECH gene defect and a wild-type low-expressed allele is generally involved in the clinical expression of EPP; (2) the low-expressed allelic variant was strongly associated with a partial 5' haplotype [-251G IVS1-23T IVS2microsatA9] that may be ancestral and was present in an estimated 10% of a control group of Caucasian origin; and (3) haplotyping allows the absolute risk of developing the disease to be predicted for those inheriting FECH EPP mutations. EPP may thus be considered as an inherited disorder that does not strictly follow recessive or dominant rules. It may represent a model for phenotype modulation by mild variation in expression of the wild-type allele in autosomal dominant diseases.  (+info)

Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria. (2/58)

In summary, FC gene mutations in patients with protoporphyric liver disease typically cause major structural alterations in the FC protein. However, the gene mutations by themselves do not satisfactorily account for the severe phenotype, as the same mutations are found in asymptomatic family members, and similar mutations are found in patients who do not develop liver disease. Thus there may be unidentified factors in the FC gene locus, or factors outside the locus, which are also important in determining the degree of protoporphyrin accumulation that occurs in an individual patient, hence, the potential for developing significant liver disease. Further studies are needed to clarify this possibility and identify those factors.  (+info)

Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria. (3/58)

Exposure to light precipitates the symptoms of several genetic disorders that affect both skin and internal organs. It is presumed that damage to non-cutaneous organs is initiated indirectly by light, but this is difficult to study in mammals. Zebrafish have an essentially transparent periderm for the first days of development. In a previous large-scale genetic screen we isolated a mutation, dracula (drc), which manifested as a light-dependent lysis of red blood cells [1]. We report here that protoporphyrin IX accumulates in the mutant embryos, suggesting a deficiency in the activity of ferrochelatase, the terminal enzyme in the pathway for heme biosynthesis. We find that homozygous drc(m248) mutant embryos have a G-->T transversion at a splice donor site in the ferrochelatase gene, creating a premature stop codon. The mutant phenotype, which shows light-dependent hemolysis and liver disease, is similar to that seen in humans with erythropoietic protoporphyria, a disorder of ferrochelatase.  (+info)

Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice. (4/58)

Erythropoietic protoporphyria (EPP) is an inherited disorder of heme synthesis caused by deficiency of the mitochondrial enzyme ferrochelatase. EPP in humans is associated with liver disease, hypertriglyceridemia, and a low level of high density lipoprotein (HDL) cholesterol. To explore consequences of ferrochelatase deficiency in lipid metabolism, we have analyzed hepatic lipid content and plasma lipoprotein levels in chow-fed BALB/c mice homozygous ( fch/fch) or heterozygous ( fch/1) for a point mutation in the ferrochelatase gene and in wild-type controls (1/1). Livers of fch/fch mice show bile duct proliferation and biliary fibrosis, but bile formation is not impaired. The free cholesterol content of fch/fch livers is significantly increased when compared with fch/1 and 1/1 livers. Plasma cholesterol in fch/fch mice (9.9 +/- 6.4 mM) is elevated when compared with fch/1 and 1/1 mice (2.9 +/- 0.2 and 2.5 +/- 0.3 mM, respectively), because of an increased cholesterol content in the very low density lipoprotein-sized fractions, whereas HDL cholesterol is reduced. The ratio of cholesteryl ester to free cholesterol is 4.3 +/- 0.6, 3.3 +/- 0.3, and 0.3 +/- 0.1 in the plasma of 1/1, fch/1, and fch/fch mice, respectively. The latter is not due to reduced lecithin:cholesterol acyltransferase activity in plasma of fch/fch mice but to the presence of lipoprotein-X (Lp-X), a particle composed of bile-type lipids usually seen only in cholestatic conditions. Expression of mdr2, essential for biliary phospholipid/cholesterol secretion, is increased in fch/fch livers. In spite of this, biliary phospholipid/cholesterol secretion is reduced relative to that of bile salts. It is postulated that an inability of bile salts to stimulate lipid secretion adequately leads to formation of Lp-X in this noncholestatic condition. Distinct atherosclerotic lesions were found in aged fch/fch mice.Thus, ferrochelatase deficiency in mice leads to liver disease associated with altered hepatic lipid metabolism, a characteristic hyperlipidemia, and development of atherosclerosis.-Bloks, V. W., T. Plosch, H. van Goor, H. Roelofsen, J. Baller, R. Havinga, H. J. Verkade, A. van Tol, P. L. M. Jansen, and F. Kuipers. Hyperlipidemia and atherosclerosis associated with liver disease in ferrochelatase-deficient mice. J. Lipid Res. 2001. 42: 41;-50.  (+info)

Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection. (5/58)

Successful treatment of blood disorders by gene therapy has several complications, one of which is the frequent lack of selective advantage of genetically corrected cells. Erythropoietic protoporphyria (EPP), caused by a ferrochelatase deficiency, is a good model of hematological genetic disorders with a lack of spontaneous in vivo selection. This disease is characterized by accumulation of protoporphyrin in red blood cells, bone marrow, and other organs, resulting in severe skin photosensitivity. Here we develop a self-inactivating lentiviral vector containing human ferrochelatase cDNA driven by the human ankyrin-1/beta-globin HS-40 chimeric erythroid promoter/enhancer. We collected bone marrow cells from EPP male donor mice for lentiviral transduction and injected them into lethally irradiated female EPP recipient mice. We observed a high transduction efficiency of hematopoietic stem cells resulting in effective gene therapy of primary and secondary recipient EPP mice without any selectable system. Skin photosensitivity was corrected for all secondary engrafted mice and was associated with specific ferrochelatase expression in the erythroid lineage. An erythroid-specific expression was sufficient to reverse most of the clinical and biological manifestations of the disease. This improvement in the efficiency of gene transfer with lentiviruses may contribute to the development of successful clinical protocols for erythropoietic diseases.  (+info)

Increased expression of the Abcg2 transporter during erythroid maturation plays a role in decreasing cellular protoporphyrin IX levels. (6/58)

ABCG2/BCRP is a member of the adenosine triphosphate-binding cassette (ABC) transporter family and is expressed in intestine, kidney, and liver, where it modulates the absorption and excretion of xenobiotic compounds. ABCG2 is also expressed in hematopoietic stem cells and erythroid cells; however, little is known regarding its role in hematopoiesis. Abcg2 null mice have increased levels of protoporphyrin IX (PPIX) in erythroid cells, yet the mechanism for this remains uncertain. We have found that Abcg2 mRNA expression was up-regulated in differentiating erythroid cells, coinciding with increased expression of other erythroid-specific genes. This expression pattern was associated with significant amounts of ABCG2 protein on the membrane of mature peripheral blood erythrocytes. Erythroid cells engineered to express ABCG2 had significantly lower intracellular levels of PPIX, suggesting the modulation of PPIX level by ABCG2. This modulating activity was abrogated by treatment with a specific ABCG2 inhibitor, Ko143, implying that PPIX may be a direct substrate for the transporter. Taken together, our results demonstrate that ABCG2 plays a role in regulating PPIX levels during erythroid differentiation and suggest a potential role for ABCG2 as a genetic determinant in erythropoietic protoporphyria.  (+info)

Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. (7/58)

Erythropoietic protoporphyria (EPP) is an autosomal inherited disease of heme biosynthesis caused by a partial deficiency of the enzyme ferrochelatase. Patients with EPP show only 20-30% normal activity because of mutations in one of the alleles of the ferrochelatase gene. To clarify the molecular mechanisms of this low level of activity, we co-expressed human ferrochelatase carrying His- and HA-tags in a tandem fashion in Escherichia coli. Purification of the His-tag-containing enzyme revealed that the His-enzyme forms an oligomer in association with the HA-enzyme, and analysis by gel-filtration confirmed that the enzyme is a dimer (approximately 80 kDa). Then we expressed homo- and heterodimers composed of the wild-type and engineered mutants of the enzyme (C395Delta, H157A, H263A, H388A) or mutants from EPP patients (I186T, M267I). The levels of homodimeric enzymes produced were low, and the activities of the purified homodimeric mutants were abolished. On the other hand, the heterodimers with wild-type and mutated subunits exhibited potential, but weak, activities without a marked change of Km values for substrates. These results showed that heterodimers containing normal and mutated subunits retain the enzymic activity, which is inconsistent with the hypothesis that ferrochelatase is only active when the dimer contains two normal subunits. Pretreatment at 42 degrees C led to a rapid inactivation of the heterodimeric mutants, indicating instability. Thus, we provide evidence that the instability of the heterodimer containing normal and mutated ferrochelatase as well as the low production levels due to the structural defect of the mutant protein, not the abolishment of the enzymic activity of the heterodimer, causes the weak activity in EPP patients.  (+info)

Prevention of murine erythropoietic protoporphyria-associated skin photosensitivity and liver disease by dermal and hepatic ferrochelatase. (8/58)

Erythropoietic protoporphyria (EPP) is caused by a defect in ferrochelatase, leading to the accumulation of protoporphyrin predominantly in erythrocytes and hepatocytes, and resulting in skin photosensitivity upon leaching of blood protoporphyrin into the skin. Some patients also develop severe liver damage. Because the respective contributions of hepatic and erythrocytic protoporphyrin to the pathophysiology of EPP remain unclear, we investigated this question using the murine model of EPP. Transplantation of bone marrow from EPP mice to normal recipients resulted in elevated erythrocyte and plasma protoporphyrin levels. However, quantification of serum liver enzymes and bilirubin together with histopathologic examination of liver sections of mice up to 16 months post-transplantation showed no evidence of liver damage. Moreover, despite massive elevation of serum protoporphyrin, transplanted mice showed minimal evidence of skin photosensitivity. Photosensitivity could also be prevented locally by implanting skin grafts from normal mice onto the backs of EPP recipients. These data validate the hypothesis that the main source of toxic protoporphyrin originates from the erythrocytes. However, we unexpectedly observed that normal ferrochelatase activity in hepatic and dermal cells of wild-type mice is sufficient to prevent liver disease and significant skin photosensitivity. These findings may provide new strategies for the treatment of EPP.  (+info)

Erythropoietic Protoporphyria (EPP) is a rare inherited disorder of porphyrin metabolism. It results from a deficiency in the ferrochelatase enzyme, which normally catalyzes the insertion of iron into protoporphyrin to form heme. This deficiency leads to an accumulation of protoporphyrin, particularly in red blood cells and plasma.

The accumulated protoporphyrin is sensitive to light, particularly wavelengths between 400-410 nm (blue light). When exposed to this light, the protoporphyrin molecules absorb the light energy and transfer it to molecular oxygen, leading to the formation of highly reactive singlet oxygen. This reaction causes oxidative damage to surrounding tissues, resulting in the symptoms of EPP.

The main symptom is severe, painful burn-like reactions on exposed skin after sunlight exposure, often accompanied by swelling and itching. These symptoms can occur within minutes of sun exposure and can last for several days. Chronic skin changes such as scarring and milia can also occur over time.

EPP is usually diagnosed through the measurement of porphyrins in the blood or stool, and genetic testing can confirm the diagnosis. Treatment typically involves avoiding sunlight exposure, using sun protection measures, and in some cases, oral beta-carotene or cysteine supplements to reduce symptoms. In severe cases, heme arginate or afamelanotide may be used.

Hepatoerythropoietic porphyria (HEP) is a rare inherited metabolic disorder that affects the production of heme, a component in hemoglobin. It is a subtype of porphyria known as "erythropoietic porphyria," which primarily affects the bone marrow and erythroid cells.

In HEP, there are deficiencies in the activity of two enzymes involved in heme biosynthesis: uroporphyrinogen III synthase (UROS) and coproporphyrinogen oxidase (CPOX). This double enzyme deficiency leads to the accumulation of porphyrin precursors, particularly uroporphyrinogen I and coproporphyrinogen I, in erythrocytes, plasma, and tissues.

The main clinical manifestations of HEP include severe cutaneous photosensitivity, blistering, scarring, and hypertrichosis (excessive hair growth) on sun-exposed areas. Other features may include hemolytic anemia, splenomegaly, and liver dysfunction. The condition typically presents in infancy or early childhood, and it can be associated with significant morbidity and mortality if not properly managed.

Diagnosis of HEP is based on the detection of elevated levels of porphyrin precursors in plasma, erythrocytes, and stool, as well as genetic testing to confirm mutations in the UROS and CPOX genes. Treatment involves avoidance of sunlight exposure, use of sun-protective measures, and management of anemia with blood transfusions or other therapies. In some cases, hematopoietic stem cell transplantation may be considered as a curative treatment option.

Ferrochelatase is a medical/biochemical term that refers to an enzyme called Fe-chelatase or heme synthase. This enzyme plays a crucial role in the biosynthesis of heme, which is a vital component of hemoglobin, cytochromes, and other important biological molecules.

Ferrochelatase functions by catalyzing the insertion of ferrous iron (Fe2+) into protoporphyrin IX, the final step in heme biosynthesis. This enzyme is located within the inner mitochondrial membrane of cells and is widely expressed in various tissues, with particularly high levels found in erythroid precursor cells, liver, and brain.

Defects or mutations in the ferrochelatase gene can lead to a rare genetic disorder called erythropoietic protoporphyria (EPP), which is characterized by an accumulation of protoporphyrin IX in red blood cells, plasma, and other tissues. This accumulation results in photosensitivity, skin lesions, and potential complications such as liver dysfunction and gallstones.

Porphyrias are a group of rare genetic disorders that affect the production of heme, a component in hemoglobin that carries oxygen in the blood. The diseases are caused by mutations in the genes involved in the production of heme, leading to the buildup of porphyrins or their precursors in the body. These substances can be toxic and can cause various symptoms depending on the specific type of porphyria. Symptoms may include abdominal pain, neurological problems, and skin issues. Porphyrias are typically divided into two categories: acute porphyrias, which affect the nervous system, and cutaneous porphyrias, which primarily affect the skin.

Photosensitivity disorders refer to conditions that cause an abnormal reaction to sunlight or artificial light. This reaction can take the form of various skin changes, such as rashes, inflammation, or pigmentation, and in some cases, it can also lead to systemic symptoms like fatigue, fever, or joint pain.

The two main types of photosensitivity disorders are:

1. Phototoxic reactions: These occur when a substance (such as certain medications, chemicals, or plants) absorbs light energy and transfers it to skin cells, causing damage and inflammation. The reaction typically appears within 24 hours of exposure to the light source and can resemble a sunburn.

2. Photoallergic reactions: These occur when the immune system responds to the combination of light and a particular substance, leading to an allergic response. The reaction may not appear until several days after initial exposure and can cause redness, itching, and blistering.

It is important for individuals with photosensitivity disorders to avoid excessive sun exposure, wear protective clothing, and use broad-spectrum sunscreens with a high SPF rating to minimize the risk of phototoxic or photoallergic reactions.

Protoporphyrins are organic compounds that are the immediate precursors to heme in the porphyrin synthesis pathway. They are composed of a porphyrin ring, which is a large, complex ring made up of four pyrrole rings joined together, with an acetate and a propionate side chain at each pyrrole. Protoporphyrins are commonly found in nature and are important components of many biological systems, including hemoglobin, the protein in red blood cells that carries oxygen throughout the body.

There are several different types of protoporphyrins, including protoporphyrin IX, which is the most common form found in humans and other animals. Protoporphyrins can be measured in the blood or other tissues as a way to diagnose or monitor certain medical conditions, such as lead poisoning or porphyrias, which are rare genetic disorders that affect the production of heme. Elevated levels of protoporphyrins in the blood or tissues can indicate the presence of these conditions and may require further evaluation and treatment.

Hepatic porphyrias are a group of rare genetic disorders that affect the production of heme in the liver. Heme is a crucial component of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In hepatic porphyrias, there is a buildup of porphyrins or porphyrin precursors, which are toxic and can cause a variety of symptoms.

The four types of hepatic porphyrias are:

1. Acute Intermittent Porphyria (AIP): This is the most common type of hepatic porphyria. It is characterized by attacks of abdominal pain, nausea, vomiting, constipation, and neurological symptoms such as muscle weakness, seizures, and mental changes.
2. Variegate Porphyria (VP): This type of porphyria is more common in South Africa but can occur worldwide. It is characterized by skin symptoms such as blistering and scarring after exposure to sunlight, as well as acute attacks similar to those seen in AIP.
3. Hereditary Coproporphyria (HCP): This type of porphyria is similar to VP, but the symptoms are usually less severe. It can cause both skin symptoms and acute attacks.
4. ALA Dehydratase Deficiency Porphyria (ADDP): This is the rarest type of hepatic porphyria. It is characterized by severe neurological symptoms and is often diagnosed in infancy or early childhood.

The diagnosis of hepatic porphyrias typically involves measuring the levels of porphyrins and their precursors in the urine, blood, or stool during an attack or between attacks. Treatment may include avoiding trigger factors such as certain medications, alcohol, and smoking, as well as providing supportive care during acute attacks. In some cases, medication to reduce porphyrin production or prevent attacks may be necessary.

Griseofulvin is an antifungal medication used to treat various fungal infections, including those affecting the skin, hair, and nails. It works by inhibiting the growth of fungi, particularly dermatophytes, which cause these infections. Griseofulvin can be obtained through a prescription and is available in oral (by mouth) and topical (on the skin) forms.

The primary mechanism of action for griseofulvin involves binding to tubulin, a protein necessary for fungal cell division. This interaction disrupts the formation of microtubules, which are crucial for the fungal cell's structural integrity and growth. As a result, the fungi cannot grow and multiply, allowing the infected tissue to heal and the infection to resolve.

Common side effects associated with griseofulvin use include gastrointestinal symptoms (e.g., nausea, vomiting, diarrhea), headache, dizziness, and skin rashes. It is essential to follow the prescribing physician's instructions carefully when taking griseofulvin, as improper usage may lead to reduced effectiveness or increased risk of side effects.

It is important to note that griseofulvin has limited use in modern medicine due to the development of newer and more effective antifungal agents. However, it remains a valuable option for specific fungal infections, particularly those resistant to other treatments.

Porphyrins are complex organic compounds that contain four pyrrole rings joined together by methine bridges (=CH-). They play a crucial role in the biochemistry of many organisms, as they form the core structure of various heme proteins and other metalloproteins. Some examples of these proteins include hemoglobin, myoglobin, cytochromes, and catalases, which are involved in essential processes such as oxygen transport, electron transfer, and oxidative metabolism.

In the human body, porphyrins are synthesized through a series of enzymatic reactions known as the heme biosynthesis pathway. Disruptions in this pathway can lead to an accumulation of porphyrins or their precursors, resulting in various medical conditions called porphyrias. These disorders can manifest as neurological symptoms, skin lesions, and gastrointestinal issues, depending on the specific type of porphyria and the site of enzyme deficiency.

It is important to note that while porphyrins are essential for life, their accumulation in excessive amounts or at inappropriate locations can result in pathological conditions. Therefore, understanding the regulation and function of porphyrin metabolism is crucial for diagnosing and managing porphyrias and other related disorders.

5-Aminolevulinate synthase (ALAS) is an enzyme that catalyzes the first step in heme biosynthesis, a metabolic pathway that produces heme, a porphyrin ring with an iron atom at its center. Heme is a crucial component of hemoglobin, cytochromes, and other important molecules in the body.

ALAS exists in two forms: ALAS1 and ALAS2. ALAS1 is expressed in all tissues, while ALAS2 is primarily expressed in erythroid cells (precursors to red blood cells). The reaction catalyzed by ALAS involves the condensation of glycine and succinyl-CoA to form 5-aminolevulinate.

Deficiencies or mutations in the ALAS2 gene can lead to a rare genetic disorder called X-linked sideroblastic anemia, which is characterized by abnormal red blood cell maturation and iron overload in mitochondria.

Erythropoietic Porphyria (EP) is a rare inherited disorder of the heme biosynthesis pathway, specifically caused by a deficiency of the enzyme uroporphyrinogen III synthase. This results in the accumulation of porphyrin precursors, particularly uroporphyrin I and coproporphyrin I, in erythrocytes (red blood cells), bone marrow, and other tissues. The accumulation of these porphyrins leads to photosensitivity, hemolysis, and iron overload.

The symptoms of EP typically appear in childhood or early adulthood and include severe skin fragility and blistering, particularly on sun-exposed areas, which can result in scarring, disfigurement, and increased susceptibility to infection. Other features may include anemia due to hemolysis, iron overload, and splenomegaly (enlarged spleen).

The diagnosis of EP is based on clinical symptoms, laboratory tests measuring porphyrin levels in blood and urine, and genetic testing to confirm the presence of pathogenic variants in the UROS gene. Treatment for EP includes avoidance of sunlight exposure, use of sun-protective measures, and management of anemia with blood transfusions or erythropoietin injections. In some cases, bone marrow transplantation may be considered as a curative treatment option.

Phototoxic dermatitis is a skin reaction that occurs when certain chemicals (known as photosensitizers) in a substance come into contact with the skin and then are exposed to sunlight or artificial UV light. This results in an exaggerated sunburn-like reaction, characterized by redness, swelling, itching, and sometimes blistering of the skin. The reaction usually occurs within a few hours to a couple of days after exposure to the offending agent and light. Common causes include certain medications, essential oils, fragrances, and plants like limes, celery, and parsley. Once the irritant is no longer in contact with the skin and sun exposure is avoided, the symptoms typically resolve within a week or two. Prevention includes avoiding the offending agent and protecting the skin from sunlight through the use of clothing, hats, and broad-spectrum sunscreens.

A lyase is a type of enzyme that catalyzes the breaking of various chemical bonds in a molecule, often resulting in the formation of two new molecules. Lyases differ from other types of enzymes, such as hydrolases and oxidoreductases, because they create double bonds or rings as part of their reaction mechanism.

In the context of medical terminology, lyases are not typically discussed on their own, but rather as a type of enzyme that can be involved in various biochemical reactions within the body. For example, certain lyases play a role in the metabolism of carbohydrates, lipids, and amino acids, among other molecules.

One specific medical application of lyase enzymes is in the diagnosis of certain genetic disorders. For instance, individuals with hereditary fructose intolerance (HFI) lack the enzyme aldolase B, which is a type of lyase that helps break down fructose in the liver. By measuring the activity of aldolase B in a patient's blood or tissue sample, doctors can diagnose HFI and recommend appropriate dietary restrictions to manage the condition.

Overall, while lyases are not a medical diagnosis or condition themselves, they play important roles in various biochemical processes within the body and can be useful in the diagnosis of certain genetic disorders.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

Ultraviolet microscopy (UV microscopy) is a type of microscopy that uses ultraviolet light to visualize specimens. In this technique, ultraviolet radiation is used as the illumination source, and a special objective lens and filter are used to detect the resulting fluorescence emitted by the specimen.

The sample is usually stained with a fluorescent dye that absorbs the ultraviolet light and re-emits it at a longer wavelength, which can then be detected by the microscope's detector system. This technique allows for the visualization of structures or components within the specimen that may not be visible using traditional brightfield microscopy.

UV microscopy is commonly used in biological research to study the structure and function of cells, tissues, and proteins. It can also be used in forensic science to analyze evidence such as fingerprints, fibers, and other trace materials. However, it's important to note that UV radiation can be harmful to living tissue, so special precautions must be taken when using this technique.

Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.

Mallory bodies are eosinophilic, hyaline inclusions found in the cytoplasm of hepatocytes (liver cells) that are pathognomonic for alcoholic liver disease. They were first described by Mallory in 1911 and are also known as "Mallory's hyaline." These bodies are composed of aggregates of intermediate filaments, primarily keratin, and are thought to result from the oxidative stress and cellular damage caused by excessive alcohol consumption. The presence of Mallory bodies is associated with a poor prognosis in patients with alcoholic liver disease.

Jaundice is a medical condition characterized by the yellowing of the skin, sclera (whites of the eyes), and mucous membranes due to an excess of bilirubin in the bloodstream. Bilirubin is a yellow-orange pigment produced when hemoglobin from red blood cells is broken down. Normally, bilirubin is processed by the liver and excreted through bile into the digestive system. However, if there's an issue with bilirubin metabolism or elimination, it can accumulate in the body, leading to jaundice.

Jaundice can be a symptom of various underlying conditions, such as liver diseases (hepatitis, cirrhosis), gallbladder issues (gallstones, tumors), or blood disorders (hemolysis). It is essential to consult a healthcare professional if jaundice is observed, as it may indicate a severe health problem requiring prompt medical attention.

Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.

In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.

Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.

Hypochromic anemia is a type of anemia characterized by the presence of red blood cells that have lower than normal levels of hemoglobin and appear paler in color than normal. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. In hypochromic anemia, there may be a decrease in the production or increased destruction of red blood cells, leading to a reduced number of red blood cells and insufficient oxygen supply to the tissues.

Hypochromic anemia can result from various underlying medical conditions, including iron deficiency, thalassemia, chronic inflammation, lead poisoning, and certain infections or chronic diseases. Treatment for hypochromic anemia depends on the underlying cause and may include iron supplements, dietary changes, medications, or blood transfusions.

Liver failure is a serious condition in which the liver is no longer able to perform its normal functions, such as removing toxins and waste products from the blood, producing bile to help digest food, and regulating blood clotting. This can lead to a buildup of toxins in the body, jaundice (yellowing of the skin and eyes), fluid accumulation in the abdomen, and an increased risk of bleeding. Liver failure can be acute (sudden) or chronic (developing over time). Acute liver failure is often caused by medication toxicity, viral hepatitis, or other sudden illnesses. Chronic liver failure is most commonly caused by long-term damage from conditions such as cirrhosis, hepatitis, alcohol abuse, and non-alcoholic fatty liver disease.

It's important to note that Liver Failure is a life threatening condition and need immediate medical attention.

Heme is not a medical term per se, but it is a term used in the field of medicine and biology. Heme is a prosthetic group found in hemoproteins, which are proteins that contain a heme iron complex. This complex plays a crucial role in various biological processes, including oxygen transport (in hemoglobin), electron transfer (in cytochromes), and chemical catalysis (in peroxidases and catalases).

The heme group consists of an organic component called a porphyrin ring, which binds to a central iron atom. The iron atom can bind or release electrons, making it essential for redox reactions in the body. Heme is also vital for the formation of hemoglobin and myoglobin, proteins responsible for oxygen transport and storage in the blood and muscles, respectively.

In summary, heme is a complex organic-inorganic structure that plays a critical role in several biological processes, particularly in electron transfer and oxygen transport.

Lead poisoning is a type of metal poisoning caused by the accumulation of lead in the body, often over months or years. Even small amounts of lead can cause serious health problems. Children under the age of 6 are particularly vulnerable to lead poisoning, which can severely affect mental and physical development.

The primary source of lead exposure is lead-based paint and lead-contaminated dust in older buildings. Lead can also be found in water supplied through lead pipes, soil contaminated by historical industrial activity, air (in certain industries and locations), and some consumer products such as toys, cosmetics, and traditional medicines.

Lead poisoning can cause a wide range of symptoms, including developmental delays, learning difficulties, abdominal pain, irritability, fatigue, loss of appetite, weight loss, constipation, vomiting, and memory or concentration problems. In severe cases, it can lead to seizures, coma, and even death.

It's important to note that there is no safe level of lead exposure, and any amount of lead in the body is potentially harmful. If you suspect lead poisoning, consult a healthcare professional for evaluation and treatment options.

Erythrocyte aging, also known as red cell aging, is the natural process of changes and senescence that occur in red blood cells (erythrocytes) over time. In humans, mature erythrocytes are devoid of nuclei and organelles, and have a lifespan of approximately 120 days.

During aging, several biochemical and structural modifications take place in the erythrocyte, including:

1. Loss of membrane phospholipids and proteins, leading to increased rigidity and decreased deformability.
2. Oxidative damage to hemoglobin, resulting in the formation of methemoglobin and heinz bodies.
3. Accumulation of denatured proteins and aggregates, which can impair cellular functions.
4. Changes in the cytoskeleton, affecting the shape and stability of the erythrocyte.
5. Increased expression of surface markers, such as Band 3 and CD47, that signal the spleen to remove aged erythrocytes from circulation.

The spleen plays a crucial role in removing senescent erythrocytes by recognizing and phagocytosing those with altered membrane composition or increased expression of surface markers. This process helps maintain the overall health and functionality of the circulatory system.

Liver diseases refer to a wide range of conditions that affect the normal functioning of the liver. The liver is a vital organ responsible for various critical functions such as detoxification, protein synthesis, and production of biochemicals necessary for digestion.

Liver diseases can be categorized into acute and chronic forms. Acute liver disease comes on rapidly and can be caused by factors like viral infections (hepatitis A, B, C, D, E), drug-induced liver injury, or exposure to toxic substances. Chronic liver disease develops slowly over time, often due to long-term exposure to harmful agents or inherent disorders of the liver.

Common examples of liver diseases include hepatitis, cirrhosis (scarring of the liver tissue), fatty liver disease, alcoholic liver disease, autoimmune liver diseases, genetic/hereditary liver disorders (like Wilson's disease and hemochromatosis), and liver cancers. Symptoms may vary widely depending on the type and stage of the disease but could include jaundice, abdominal pain, fatigue, loss of appetite, nausea, and weight loss.

Early diagnosis and treatment are essential to prevent progression and potential complications associated with liver diseases.

Skin diseases, also known as dermatological conditions, refer to any medical condition that affects the skin, which is the largest organ of the human body. These diseases can affect the skin's function, appearance, or overall health. They can be caused by various factors, including genetics, infections, allergies, environmental factors, and aging.

Skin diseases can present in many different forms, such as rashes, blisters, sores, discolorations, growths, or changes in texture. Some common examples of skin diseases include acne, eczema, psoriasis, dermatitis, fungal infections, viral infections, bacterial infections, and skin cancer.

The symptoms and severity of skin diseases can vary widely depending on the specific condition and individual factors. Some skin diseases are mild and can be treated with over-the-counter medications or topical creams, while others may require more intensive treatments such as prescription medications, light therapy, or even surgery.

It is important to seek medical attention if you experience any unusual or persistent changes in your skin, as some skin diseases can be serious or indicative of other underlying health conditions. A dermatologist is a medical doctor who specializes in the diagnosis and treatment of skin diseases.

In medical terms, the skin is the largest organ of the human body. It consists of two main layers: the epidermis (outer layer) and dermis (inner layer), as well as accessory structures like hair follicles, sweat glands, and oil glands. The skin plays a crucial role in protecting us from external factors such as bacteria, viruses, and environmental hazards, while also regulating body temperature and enabling the sense of touch.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Hemolysis is the destruction or breakdown of red blood cells, resulting in the release of hemoglobin into the surrounding fluid (plasma). This process can occur due to various reasons such as chemical agents, infections, autoimmune disorders, mechanical trauma, or genetic abnormalities. Hemolysis may lead to anemia and jaundice, among other complications. It is essential to monitor hemolysis levels in patients undergoing medical treatments that might cause this condition.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

"Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)". American Porphyria Foundation. Retrieved 2022-01-26. ... Bonkovsky HL, Rudnick SR (December 2020). "Erythropoietic Protoporphyria and X-Linked Protoporphyria - Hormonal and Metabolic ... Erythropoietic protoporphyria was first described in 1953 by Kosenow and Treibs and completed in 1960 by Magnus et al. at the ... Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful ...
FECH Protoporphyria, erythropoietic, autosomal recessive; 177000; FECH Protoporphyria, erythropoietic, X-linked dominant; ... congenital erythropoietic; 263700; UROS Porphyria, hepatoerythropoietic; 176100; UROD Prader-Willi syndrome; 176270; NDN Prader ...
X-linked dominant protoporphyria is a rare form of erythropoietic protoporphyria caused by a gain-of-function mutation in ALAS2 ... "OMIM Entry - # 300752 - PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED; XLEPP". omim.org. "Orphanet: X linked erythropoietic ... congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria (EPP). None of ... Individuals with congenital erythropoietic porphyria do not crave blood. The enzyme (hematin) necessary to alleviate symptoms ...
"Liver disease and erythropoietic protoporphyria: a concise review". World Journal of Gastroenterology. 16 (36): 4526-31. doi: ... deficiency sickle cell anemia sideroblastic anemia anemia of chronic disease vanadium exposure erythropoietic protoporphyria ...
Defects in ferrochelatase create a buildup of protoporphyrin IX, causing erythropoietic protoporphyria (EPP). The disease can ... Cox TM (June 1997). "Erythropoietic protoporphyria". Journal of Inherited Metabolic Disease. 20 (2): 258-69. doi:10.1023/A: ... Sarkany RP, Alexander GJ, Cox TM (June 1994). "Recessive inheritance of erythropoietic protoporphyria with liver failure". ... Lyases Erythropoietic protoporphyria Sirohydrochlorin ferrochelatase Zinc protoporphyrin "FECH - Ferrochelatase, mitochondrial ...
including E. H. Kass) (1974). "ß-Carotene as an Oral Photoprotective Agent in Erythropoietic Protoporphyria". JAMA: The Journal ... "Beta-Carotene as a Photoprotective Agent in Erythropoietic Protoporphyria". New England Journal of Medicine. 282 (22): 1231- ...
Abnormal Mfrn1 expression, for example, may contribute to Erythropoietic protoporphyria, a porphyrin disease linked to ... "Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria". Experimental Hematology. 39 (7): 784-94. doi: ... from anemia to protoporphyria". Blood. 117 (20): 5494-502. doi:10.1182/blood-2010-11-319483. PMC 3109720. PMID 21310927. Huo YX ...
List of phobias Erythropoietic protoporphyria Duffy, Tammy (Jan 8, 2009). "Heliophobia: the Fear of the Sun". Healthmad. {{cite ... However, other differential diagnoses like the rare genetic defect erythropoietic protoporphyria characterized by a severe ...
Oral β-carotene is prescribed to people suffering from erythropoietic protoporphyria. It provides them some relief from ... Mathews-Ross, Michelene (1977). "Beta Carotene Therapy for Erythropoietic Protoporphyria and Other Photosensitivity Diseases". ...
Lim, H. W. (1989). "Mechanisms of phototoxicity in porphyria cutanea tarda and erythropoietic protoporphyria". Immunology ... "Mechanisms of photosensitivity in porphyric patients with special emphasis on erythropoietic protoporphyria". Journal of ...
"A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria". Cellular and Molecular ... caused by beta-carotenoid treatment of certain photo-sensitive dermatitis diseases such as erythropoietic protoporphyria, where ...
People with erythropoietic protoporphyria (EPP) are at increased risk to develop gallstones. Additionally, prolonged use of ...
As of 2010, afamelanotide was in Phase III trials for erythropoietic protoporphyria and polymorphous light eruption and was in ... There were three trials that evaluated afamelanotide in those with erythropoietic protoporphyria. In Trial 1, subjects received ... from erythropoietic protoporphyria. Very common adverse effects include nausea and headache (may affect more than 10% of people ... 18-74 years of age with erythropoietic protoporphyria. The trials were conducted at 22 sites in the US and Europe. In October ...
Erythropoietic protoporphyria (EPP) has similar symptoms as X-linked dominant erythropoietic protoporphyria but the mutation ... Erythropoietic porphyria is a type of porphyria associated with erythropoietic cells. In erythropoietic porphyrias, the enzyme ... X-linked dominant erythropoietic protoporphyria is distinct from EPP in that there is no overload of Fe2+ ions. Additionally, ... X-linked dominant erythropoietic protoporphyria (XDEPP) is caused by a gain of function mutation in the ALAS2 (5- ...
People who use drugs such as benoxaprofen or patients with erythropoietic protoporphyria may also contract this secondary form ... have experienced solar urticarial symptoms from a young age could mistakenly be thought to have erythropoietic protoporphyria. ...
This variant of haploinsufficiency is only seen in two other human diseases: Erythropoietic protoporphyria, caused by mutations ... "Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts ...
Afamelanotide (Scenesse) is an MC1R agonist approved for patients with erythropoietic protoporphyria to increase pain-free ... 3 clinical trials to evaluate safety and tolerability in patients with erythropoietic protoporphyria or X-linked protoporphyria ... in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP). 2021; Available from: https:// ...
... variegate porphyria and erythropoietic protoporphyria) have been associated with solar urticaria. The occurrence of drug- ...
A second clinical pattern of pseudoporphyria has a similar presentation to erythropoietic protoporphyria (EPP), an autosomal ...
... the former of which has been approved as a treatment to reduce photosensitivity in erythropoietic protoporphyria in the United ...
... and porphyria-particularly acute intermittent porphyria and erythropoietic protoporphyria.[citation needed] There is an ...
... erythropoietic protoporphyria.[citation needed] Impossible Foods, producers of plant-based meat substitutes, use an accelerated ... deficiency causes erythropoietic protoporphyria) HMBS: hydroxymethylbilane synthase (deficiency causes acute intermittent ... deficiency causes congenital erythropoietic porphyria) Bloomer, Joseph R. (1998). "Liver metabolism of porphyrins and haem". ...
... a PC memory specification Erythropoietic protoporphyria, a genetic disorder Expanded Polypropylene, a flexible and versatile ...
Dystrophic calcinosis cutis Eruptive xanthoma Erythropoietic protoporphyria Fabry disease (Anderson-Fabry disease, ... Cerebrotendinous xanthomatosis Citrullinemia Congenital erythropoietic porphyria (Gunther's disease) Diabetic bulla (bullosis ...
... erythropoietic protoporphyria and pyruvate kinase deficiency, a decline in hemopexin concentration occurs in situations when ...
Afamelanotide (brand name Scenesse) has been approved for the treatment of erythropoietic protoporphyria in Europe and is also ...
... erythropoietic protoporphyria) Epstein barr virus mononucleosis Epstein syndrome Equinophobia Erb-Duchenne palsy Erdheim ... Erythrokeratolysis hiemalis ichthyosis Erythromelalgia Erythroplakia Erythroplasia of Queyrat Erythropoietic protoporphyria ...
... protoporphyria, erythropoietic MeSH C06.689.500.692 - pancreatic pseudocyst MeSH C06.689.667.249 - adenoma, islet cell MeSH ...
Chase, playing with a laser pointer, realizes that Alice has erythropoietic protoporphyria (an allergy to lights that made her ...
... protoporphyria, erythropoietic MeSH C18.452.648.769 - progeria MeSH C18.452.648.798 - purine-pyrimidine metabolism, inborn ... protoporphyria, erythropoietic MeSH C18.452.872.866 - xanthogranuloma, juvenile MeSH C18.452.872.929 - xanthomatosis MeSH ... erythropoietic MeSH C18.452.648.735 - porphyrias, hepatic MeSH C18.452.648.735.074 - coproporphyria, hereditary MeSH C18.452. ... erythropoietic MeSH C18.452.872.617.400 - porphyrias, hepatic MeSH C18.452.872.617.400.074 - coproporphyria, hereditary MeSH ...
"Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)". American Porphyria Foundation. Retrieved 2022-01-26. ... Bonkovsky HL, Rudnick SR (December 2020). "Erythropoietic Protoporphyria and X-Linked Protoporphyria - Hormonal and Metabolic ... Erythropoietic protoporphyria was first described in 1953 by Kosenow and Treibs and completed in 1960 by Magnus et al. at the ... Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful ...
Autosomal erythropoietic protoporphyria. Disease definition Erythropoietic protoporphyria (EPP) is an inherited disorder of the ... gene and named X-linked dominant protoporphyria. ...
Erythropoietic Protoporphyria (Sun Sensitivity). These children with erythropoietic protoporhyria have redness, ...
... gene and named X-linked dominant protoporphyria. Diagnosis is established by finding increased levels of protoporphyrin in ... Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of ... Erythropoietic protoporphyria, Protoporphyria, Haem synthetase deficiency, Ferrochelatase deficiency, X-linked dominant ... Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of ...
erythropoietic protoporphyria. acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to ... C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or ...
Afamelanotide for Erythropoietic Protoporphyria. N Engl J Med. 2015 Jul 2. 373 (1):48-59. [QxMD MEDLINE Link]. [Full Text]. ... Treatment of erythropoietic protoporphyria with N-acetylcysteine. Arch Dermatol. 1995 Mar. 131(3):354-5. [QxMD MEDLINE Link]. ... Erythropoietic protoporphyria. Mechanisms are similar to PCT, except that locally cutaneous production of porphyrins probably ... Novel Oral Drug Improves Sunlight Tolerance in Patients With Erythropoietic Protoporphyria * Quality of Life and Psychological ...
Learn Whats erythropoietic protoporphyria?. We got the answer here on X-Playn • Ask Anything. ... When a person with erythropoietic protoporphyria spends a short amount of time in the sun, their skin can feel itchy and tender ... Erythropoietic protoporphyria is a genetic disorder that causes extreme sensitivity to sunlight, resulting in skin irritation, ... Erythropoietic protoporphyria is a genetic disorder that predisposes people to extreme sensitivity to sunlight. The condition ...
Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) ... Excerpted from the GeneReview: Erythropoietic Protoporphyria, Autosomal Recessive. Erythropoietic protoporphyria (EPP) is ... Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems ... Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria ...
title = "Erythropoietic protoporphyria presenting with liver failure in adulthood",. keywords = "Erythropoietic protoporphyria ... Erythropoietic protoporphyria presenting with liver failure in adulthood. Amy K. Reisenauer, Seaver L. Soon, Ken K. Lee, Jon M ... Erythropoietic protoporphyria presenting with liver failure in adulthood. / Reisenauer, Amy K.; Soon, Seaver L.; Lee, Ken K. et ... Erythropoietic protoporphyria presenting with liver failure in adulthood. In: Dermatology. 2005 ; Vol. 210, No. 1. pp. 72-73. ...
Oustric, V. et al. Antisense Oligonucleotide-Based Therapy in Human Erythropoietic Protoporphyria. The American Journal of ...
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genetics in Medicine, 23(1), 140-148. ...
Erythropoietic Protoporphyria and X-Linked Protoporphyria - Learn about the causes, symptoms, diagnosis & treatment from the ... X-linked protoporphyria About 10% of people who have the symptoms of erythropoietic protoporphyria actually have increased ... Erythropoietic Protoporphyria and X-Linked Protoporphyria By Herbert L. Bonkovsky , MD, Wake Forest University School of ... Because X-linked protoporphyria is so similar to erythropoietic protoporphyria, it is sometimes regarded as a variant of ...
Erythropoietic protoporphyria (EPP) is a rare genetic disease, in which patients suffer burn-like injuries of the skin and ... News›Newsletter›Towards a treatment of erythropoietic protoporphyria. Towards a treatment of erythropoietic protoporphyria ...
Balwani M. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and ... Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ... erythropoietic protoporphyria, is estimated at 1 in 50,000 to 75,000. [2] Congenital erythropoietic porphyria is extremely rare ... Afamelanotide for Erythropoietic Protoporphyria. N Engl J Med. 2015 Jul 2. 373 (1):48-59. [QxMD MEDLINE Link]. [Full Text]. ...
Mitsubishi Phase 2 Clinical Trial Meets Endpoint for Treatment of Erythropoietic Protoporphyria (EPP). * Tuesday, November 12, ... in patients with Erythropoietic Protoporphyria (EPP).. In this Phase 2 proof of concept trial, MT-7117 met its primary endpoint ...
Norris, P. G., Nunn, A. V., Hawk, J. L. and Cox, T. M. (1990) Genetic heterogeneity in erythropoietic protoporphyria: a study ... Erythropoietic protoporphyria (EPP) is associated with a deficiency of protohaem ferrolyase. We have used a novel assay for ... Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families ... and six of seven asymptomatic offspring of patients with protoporphyria. The findings suggest that EPP is not transmitted as a ...
This Erythropoietic Protoporphyria study at UCSF is now recruiting people ages 18 years and up. ... Concentrations in Participants With Erythropoietic Protoporphyria (EPP). Keywords. Erythropoietic Protoporphyria, EPP, DISC- ... Phase 2 Erythropoietic Protoporphyria Research Study. Study Type. Interventional. Participants. Expecting 75 study participants ...
erythropoietic protoporphyria; lecture on erythropoietic protoporphyria; light shielding film; living-donor liver ... Erythropoietic protoporphyria (EPP) is a very rare disease with an estimated prevalence of 1 in 200,000 individuals. Decreased ... Living-Donor Liver Transplantation for Erythropoietic Protoporphyria: A Case Report and Literature Review. ... Living-Donor Liver Transplantation for Erythropoietic Protoporphyria: A Case Report and Li ...
The significantly increasing unmet need of advanced erythropoietic protoporphyria (EPP) treatment therapeutics for the ... Erythropoietic Protoporphyria (EPP) Treatment Market: Key Players. The global market for erythropoietic protoporphyria (EPP) ... Erythropoietic Protoporphyria (EPP) Treatment Market: Segmentation. An erythropoietic protoporphyria (EPP) treatment market can ... Erythropoietic Protoporphyria (EPP) Treatment Market, Erythropoietic Protoporphyria (EPP) Treatment Market Future Growth, ...
Erythropoietic protoporphyria. Todd DJ. Todd DJ. Br J Dermatol. 1994 Dec;131(6):751-66. doi: 10.1111/j.1365-2133.1994.tb08577.x ...
Photosensitivity Annular elastolytic giant cell granuloma Erythropoietic protoporphyria X-linked dominant protoporphyria ... R. Roelandts Erythropoietic protoporphyria is an autosomal dominant or autosomal recessive photodermatosis characterized by a ... Open the PDF for ,span class=search-highlight,Erythropoietic,/span, ,span class=search-highlight,Protoporphyria,/span,: A ... L.K. Bhutani; S.G. Deshpande A second patient with erythropoietic protoporphyria (EPP) from India is reported. Unusual features ...
Mathews-Roth, M.M. Carotenoids in Erythropoietic Protoporphyria and Other Photosensitivity Diseases. Ann. N. Y. Acad. Sci. 1993 ... Von Laar, J.; Stahl, W.; Bolsen, K.; Goerz, G.; Sies, H. β-Carotene serum levels in patients with erythropoietic protoporphyria ... One example of photosensitivity disorder is erythropoietic protoporphyria. This is an uncommon inborn haematological disease ... Beta-carotene has been long known to be beneficial for the treatment of erythropoietic protoporphyria, a rare inborn ...
Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX). In addition to ... Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating ... Erythropoietic protoporphyria (EPP) is a rare hereditary disorder characterized by dermal accumulation of the photosensitizer ... Mitigating Photosensitivity of Erythropoietic Protoporphyria Patients by an Agonistic Analog of α‐Melanocyte Stimulating ...
An inherited disorder marked by sensitivity to light (erythropoietic protoporphyria or EPP). Taking N-acetyl cysteine by mouth ... Norris, P. G., Baker, C. S., Roberts, J. E., and Hawk, J. L. Treatment of erythropoietic protoporphyria with N-acetylcysteine. ... A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. Cell Mol.Biol.(Noisy.-le ...
as a treatment for adults with erythropoietic protoporphyria (EPP). People with EPP experience severe pain and other skin ...
How I treat erythropoietic protoporphyria and X-linked protoporphyria. Blood. 2023 Jun 15; 141(24):2921-2931. ...
Diseases associated with photosensitivity include lupus erythematosus, porphyria cutanea tarda, erythropoietic protoporphyria, ...
In erythropoietic protoporphyria, an extremely rare disease, EP is markedly elevated (usually above 300 mcg/dL). BUN, ... A rare disease that may cause the ZPP level to be markedly elevated is erythropoietic protoporphyria. (13) To confirm lead ...
  • Aminolevulinic acid dehydrase (ALAD) porphyria and acute intermittent porphyria (AIP) cause predominately neurovisceral symptoms, whereas congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic porphyria (EP) cause mostly cutaneous symptoms. (medscape.com)
  • Demonstration of elevated porphyrins in plasma (particularly for congenital erythropoietic porphyria [CEP]), urine, and stool is very useful for diagnosis of the porphyrias. (medscape.com)
  • Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. (nih.gov)
  • Aminolevulinic acid dehydratase deficiency porphyria (ADP), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and hepatoerythropoietic porphyria (HEP) are autosomal recessive. (medscape.com)
  • The nonacute porphyrias include porphyria cutanea tarda (PCT), erythropoietic protoporphyria, congenital erythropoietic porphyria, and hepatoerythropoietic porphyria. (clinicaladvisor.com)
  • Also included in the differential are the other porphyrias that present with blistering (congenital erythropoietic porphyria, hepatoerythropoietic porphyria, variegate porphyria, and hereditary coproporphyria). (clinicaladvisor.com)
  • Twelve patients with porphyria cutanea tarda, eight patients with erythropoietic protoporphyria, one patient with congenital erythropoietic porphyria, two patients with acute intermittent porphyria, and four patients with hereditary coproporphyria, whose plasma specimens were similarly examined, had plasma fluorescence characteristics that were different from those of the patients with variegate porphyria. (nih.gov)
  • Individuals with any of the cutaneous porphyrias, which include porphyria cutanea tarda (PCT), congenital erythropoietic porphyria (CEP), erythropoietic protoporphyria (EPP), and XLP, can experience photosensitivity as a result of sun exposure, which can manifest with either blisters and scarring or immediate redness and pain. (arupconsult.com)
  • Erythropoietic protoporphyria (EPP) is associated with a deficiency of protohaem ferrolyase. (reading.ac.uk)
  • In about 2% of patients, overt disease was recently shown to be caused by gain-of-function mutations in the erythroid-specific aminolevulinic acid synthase 2 ( ALAS2 /ALAS, EC 2.3.1.27) gene and named X-linked dominant protoporphyria. (biomedcentral.com)
  • Erythropoietic protoporphyria (EPP) is a rare genetic disease, in which patients suffer burn-like injuries of the skin and severe pain after exposure to sunlight. (nccr-rna-and-disease.ch)
  • Erythropoietic protoporphyria (EPP) is a very rare disease with an estimated prevalence of 1 in 200,000 individuals. (bvsalud.org)
  • Additional approvals were given to assist patients with erythropoietic protoporphyria, neuromyelitis optica spectrum disorder, systemic sclerosis-associated interstitial lung disease, and Duchenne muscular dystrophy. (ajmc.com)
  • Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. (orpha.net)
  • Erythropoietic protoporphyria (EPP) is an ultra-rare inherited disorder with overproduction of protoporphyrin in maturating erythroblasts. (researchgate.net)
  • Mitsubishi Tanabe Pharma Development America, Inc. today announced successful completion of the Phase 2 clinical trial of MT-7117, an investigational oral treatment under development for the prevention of phototoxicity (including severe pain on exposure to sunlight) in patients with Erythropoietic Protoporphyria (EPP). (porphyriafoundation.org)
  • Zinc chelatase activity was below the mean control value in 17 of the 18 parents in nine affected pedigrees, and six of seven asymptomatic offspring of patients with protoporphyria. (reading.ac.uk)
  • D. Suurmond At various times of the year the protoporphyrin level in the plasma of 11 patients with erythropoietic protoporphyria was determined. (karger.com)
  • Annelise Fischer 36 patients from 19 families with erythropoietic protoporphyria were treated for about 5 years during the summer months with beta-carotene alone or beta-carotene plus canthaxanthin in daily doses of 50-200 mg. (karger.com)
  • Also first-in-class drugs, Scenesse (afamelanotide) is aimed at increasing pain-free light exposure in patients with erythropoietic protoporphyria, and Turalio (pexidartinib) capsules are available for certain adult patients with tenosynovial giant cell tumor. (ajmc.com)
  • Lymphocytes of erythropoietic protoporphyria(EPP) patients were infected with EB virus and lymphoblastoid cell lines were established. (nii.ac.jp)
  • CLINUVEL's lead compound, SCENESSE ® (afamelanotide 16mg), was approved by the European Commission in 2014 for the prevention of phototoxicity (anaphylactoid reactions and burns) in adult patients with erythropoietic protoporphyria (EPP). (clinuvel.com)
  • the most common are by pathophysiology, depending on where pathway intermediates accumulate (hepatic vs erythropoietic) or by clinical manifestation (acute vs cutaneous). (medscape.com)
  • The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. (nih.gov)
  • In erythropoietic porphyrias, these compounds originate in the bone marrow. (nih.gov)
  • Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). (nih.gov)
  • The porphyrias are caused by loss (or gain, in the case of X-linked erythropoietic protoporphyria [XLP]) of specific enzyme functions in the heme biosynthesis pathway. (arupconsult.com)
  • A clinically similar form of porphyria, known as X-Linked dominant protoporphyria, was identified in 2008. (wikipedia.org)
  • Xp11.21) gene and named X-linked dominant protoporphyria. (orpha.net)
  • [ 2 ] There is also an X-linked dominant inherited porphyria called X-linked protoporphyria (XLP). (medscape.com)
  • Photosensitivity Annular elastolytic giant cell granuloma Erythropoietic protoporphyria X-linked dominant protoporphyria Aminolaevulinate synthase 2 gene. (karger.com)
  • Erythropoietic protoporphyria and X-linked protoporphyria are conditions related to abnormalities of enzymes involved in the production of heme and characterized by sensitivity to sunlight. (msdmanuals.com)
  • Afamelanotide (erythropoietic protoporphyria) - Assessment according to §35a (para. (inahta.org)
  • Liver transplant alone is not curative for erythropoietic protoporphyria (EPP) but instead needs to be combined with bone marrow transplant. (medscape.com)
  • Also, some children and adults with erythropoietic protoporphyria have potentially serious complications of the gallbladder and liver. (x-playn.com)
  • A small number of people with erythropoietic protoporphyria develop liver problems. (x-playn.com)
  • Living-Donor Liver Transplantation for Erythropoietic Protoporphyria: A Case Report and Literature Review. (bvsalud.org)
  • A doctor can diagnose erythropoietic protoporphyria by carefully evaluating your symptoms and doing a series of blood and bile tests. (x-playn.com)
  • About 10% of people who have the symptoms of erythropoietic protoporphyria actually have increased activity of a different enzyme. (msdmanuals.com)
  • Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within 30 minutes after exposure to sun or ultraviolet light and may be accompanied by swelling and redness. (nih.gov)
  • An analysis of the UK Biobank shows the prevalence of erythropoietic protoporphyria is 2.3 times higher than previously estimated in Europe, according to the first analysis of a large genetic data set. (massgeneral.org)
  • Erythropoietic protoporphyria is a genetic disorder that causes extreme sensitivity to sunlight, resulting in skin irritation, inflammation, and pain. (x-playn.com)
  • Erythropoietic protoporphyria is a genetic disorder that predisposes people to extreme sensitivity to sunlight. (x-playn.com)
  • Decades of genetic research have uncovered the underlying cause of erythropoietic protoporphyria. (x-playn.com)
  • A diagnosis of erythropoietic protoporphyria is made by a dermatologist. (medquizzes.net)
  • Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX). (researchgate.net)
  • These children with erythropoietic protoporhyria have redness, hyperpigmentation (darkening), and crusting on the face and redness and swelling of the hands after sun exposure. (merckmanuals.com)
  • Prevention of overexposure to sunlight is the key component of treating erythropoietic protoporphyria. (x-playn.com)
  • The significantly increasing unmet need of advanced erythropoietic protoporphyria (EPP) treatment therapeutics for the treatment of erythropoietic protoporphyria (EPP) is expected to propel the growth of the global erythropoietic protoporphyria (EPP) treatment market . (latestmarketreports.com)
  • The Market Research Survey by "Fact.MR, A Market Research and Competitive Intelligence Provider" highlights the key reasons behind increasing demand of Erythropoietic Protoporphyria (EPP) Treatment. (latestmarketreports.com)
  • Erythropoietic Protoporphyria (EPP) Treatment market drivers and constraints, threats and opportunities, regional segmentation and opportunity assessment, end-use/application prospects review are addressed in the Erythropoietic Protoporphyria (EPP) Treatment market survey report. (latestmarketreports.com)
  • The survey report provides a comprehensive analysis of Erythropoietic Protoporphyria (EPP) Treatment market key trends and insights on Erythropoietic Protoporphyria (EPP) Treatment market size and share. (latestmarketreports.com)
  • An erythropoietic protoporphyria (EPP) treatment market can be segmented into therapy type, distribution channels and geography. (latestmarketreports.com)
  • What is the current scenario and key trends in Erythropoietic Protoporphyria (EPP) Treatment Market? (latestmarketreports.com)
  • What are the key categories within the Erythropoietic Protoporphyria (EPP) Treatment segments and their future potential? (latestmarketreports.com)
  • What are the major Erythropoietic Protoporphyria (EPP) Treatment Market drivers and their expected impact during the short, medium, and long terms? (latestmarketreports.com)
  • What is the Erythropoietic Protoporphyria (EPP) Treatment Market size and what are the opportunities for the key players? (latestmarketreports.com)
  • Evaluation of current Erythropoietic Protoporphyria (EPP) Treatment market size, forecast and technological advancements within the industry. (latestmarketreports.com)
  • The global market for erythropoietic protoporphyria (EPP) treatment is consolidated with few market players. (latestmarketreports.com)
  • Examples of some of the primary key players operating in the global erythropoietic protoporphyria (EPP) treatment market are Clinuvel Pharmaceuticals ALS, Johnson and Johnson, Tishcon Corp., L'Oréal S.A., Fenton Pharmaceuticals Ltd., In-Life Co. Pfizer Inc., Mylan N.V., Teva Pharmaceuticals, Sun Pharma Ltd., and among others. (latestmarketreports.com)
  • Erythropoietic Protoporphyria (EPP) Treatment Market Drivers, Segments and Restraints. (latestmarketreports.com)
  • Protoporphyria can be diagnosed by identifying numerous fluorescent erythrocytes in blood examined microscopically with a 100-watt iodine-tungsten lamp. (medscape.com)
  • Whole blood for porphyrin analysis is used to identify protoporphyria plasma porphyrins. (medscape.com)
  • Another likely suspect is the blood disorder called erythropoietic protoporphyria , which panicked sufferers used to attempt to remedy by drinking animal (or perhaps human) blood. (iflscience.com)
  • Erythropoietic protoporphyria (EPP), the most common kind of porphyria to occur in childhood, causes people's skin to become very sensitive to light. (nyrealestatelawblog.com)
  • When a person with erythropoietic protoporphyria spends a short amount of time in the sun, their skin can feel itchy and tender. (x-playn.com)
  • Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. (wikipedia.org)
  • Because X-linked protoporphyria is so similar to erythropoietic protoporphyria, it is sometimes regarded as a variant of erythropoietic protoporphyria. (msdmanuals.com)