Hyperoxaluria, Primary
Oxalates
Calcium Oxalate
Transaminases
Kidney Calculi
Nephrocalcinosis
Oxalobacter formigenes
Urolithiasis
Oxalic Acid
Urinary Calculi
Ethylene Glycol
Glyoxylates
Jejunoileal Bypass
Steatorrhea
Lactobacillus brevis
Hydroxypyruvate Reductase
Hydroxyproline
Potassium Citrate
Oxo-Acid-Lyases
Citric Acid
Kidney Failure, Chronic
Crystallization
Alcohol Oxidoreductases
The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. (1/103)
Primary hyperoxaluria type II (PH2) is a rare monogenic disorder that is characterized by a lack of the enzyme that catalyzes the reduction of hydroxypyruvate to D-glycerate, the reduction of glyoxylate to glycolate and the oxidation of D-glycerate to hydroxypyruvate. The disease is characterized by an elevated urinary excretion of oxalate and L-glycerate. The increased oxalate excretion can cause nephrolithiasis and nephrocalci-nosis and can, in some cases, result in renal failure and systemic oxalate deposition. We identified a glyoxylate reductase/hydroxypyruvate reductase (GRHPR) cDNA clone from a human liver expressed sequence tag (EST) library. Nucleotide sequence analysis identified a 1198 nucleotide clone that encoded a 984 nucleotide open reading frame. The open reading frame encodes a predicted 328 amino acid protein with a mass of 35 563 Da. Transient transfection of the cDNA clone into COS cells verified that it encoded an enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Database analysis of human ESTs reveals widespread tissue expression, indicating that the enzyme may have a previously unrecognized role in metabolism. The genomic structure of the human GRHPR gene was determined and contains nine exons and eight introns and spans approximately 9 kb pericentromeric on chromosome 9. Four PH2 patients representing two pairs of siblings from two unrelated families were analyzed for mutations in GRHPR by single strand conformation polymorphism analysis. All four patients were homozygous for a single nucleotide deletion at codon 35 in exon 2, resulting in a premature stop codon at codon 45. The cDNA that we have identified represents the first characterization of an animal GRHPR sequence. The data we present will facilitate future genetic testing to confirm the clinical diagnosis of PH2. These data will also facilitate heterozygote testing and prenatal testing in families affected with PH2 to aid in genetic counseling. (+info)Microbial relatives of the seed storage proteins of higher plants: conservation of structure and diversification of function during evolution of the cupin superfamily. (2/103)
This review summarizes the recent discovery of the cupin superfamily (from the Latin term "cupa," a small barrel) of functionally diverse proteins that initially were limited to several higher plant proteins such as seed storage proteins, germin (an oxalate oxidase), germin-like proteins, and auxin-binding protein. Knowledge of the three-dimensional structure of two vicilins, seed proteins with a characteristic beta-barrel core, led to the identification of a small number of conserved residues and thence to the discovery of several microbial proteins which share these key amino acids. In particular, there is a highly conserved pattern of two histidine-containing motifs with a varied intermotif spacing. This cupin signature is found as a central component of many microbial proteins including certain types of phosphomannose isomerase, polyketide synthase, epimerase, and dioxygenase. In addition, the signature has been identified within the N-terminal effector domain in a subgroup of bacterial AraC transcription factors. As well as these single-domain cupins, this survey has identified other classes of two-domain bicupins including bacterial gentisate 1, 2-dioxygenases and 1-hydroxy-2-naphthoate dioxygenases, fungal oxalate decarboxylases, and legume sucrose-binding proteins. Cupin evolution is discussed from the perspective of the structure-function relationships, using data from the genomes of several prokaryotes, especially Bacillus subtilis. Many of these functions involve aspects of sugar metabolism and cell wall synthesis and are concerned with responses to abiotic stress such as heat, desiccation, or starvation. Particular emphasis is also given to the oxalate-degrading enzymes from microbes, their biological significance, and their value in a range of medical and other applications. (+info)Urinary oxalate excretion in urolithiasis and nephrocalcinosis. (3/103)
AIMS: To investigate urinary oxalate excretion in children with urolithiasis and/or nephrocalcinosis and to classify hyperoxaluria (HyOx). METHODS: A total of 106 patients were screened. In those in whom the oxalate: creatinine ratio was increased, 24 hour urinary oxalate excretion was measured. Liver biopsy and/or genomic analysis was performed if primary hyperoxaluria (PH) was suspected. Stool specimens were examined for Oxalobacter formigenes in HyOx not related to PH type 1 or 2 (PH1, PH2) and in controls. RESULTS: A total of 21 patients screened had HyOx (>0.5 mmol/24 h per 1.73 m(2)); they were classified into five groups. Eleven had PH (PH1 in nine and neither PH1 nor PH2 in two). Six had secondary HyOx: two enteric and four dietary. Four could not be classified. Seven patients had concomitant hypercalciuria. Only one of 12 patients was colonised with O formigenes compared to six of 13 controls. CONCLUSIONS: HyOx is an important risk factor for urolithiasis and nephrocalcinosis in children, and can coexist with hypercalciuria. A novel type of PH is proposed. Absence of O formigenes may contribute to HyOx not related to PH1. (+info)Oxalate and calcium excretion in cystic fibrosis. (4/103)
BACKGROUND: A patient with cystic fibrosis (CF) and repeated calcium oxalate renal stones prompted us to investigate other children for risk factors for this recognised complication of CF. METHODS: Twenty four hour urinary excretion of calcium, oxalate, and glycolate was measured in children with CF and no symptoms of renal tract stones. Normal diet and treatments were continued. RESULTS: In 26 children (aged 5-15.9 years) oxalate excretion was correlated with age; 14 of 26 children had oxalate excretion above an age appropriate normal range. There was a positive correlation between oxalate excretion and glycolate excretion. Mean calcium excretion was 0.06 mmol/kg/24 h with 21 of 24 children having calcium excretion below the normal range. CONCLUSIONS: Hyperoxaluria may reflect malabsorption although correlation between excretion of oxalate and glycolate suggests a portion of the excess oxalate is derived from metabolic processes. The hypocalciuria observed here may protect children with CF from renal stones. (+info)Phenotypic expression of primary hyperoxaluria: comparative features of types I and II. (5/103)
BACKGROUND: The primary hyperoxalurias are autosomal recessive disorders resulting from deficiency of hepatic alanine:glyoxylate aminotransferase (PHI) or D-glycerate dehydrogenase/glyoxylate reductase (PHII). Marked hyperoxaluria results in urolithiasis, renal failure, and systemic oxalosis. A direct comparison of PHI and PHII has not previously been available. METHODS: Twelve patients with PHI and eight patients with PHII with an initial creatinine clearance of greater than or equal to 50 mL/min/1.73 m2 underwent similar laboratory evaluation, clinical management, and follow-up. Diagnosis of PHI and PHII was made by hepatic enzyme analysis (N = 11), increased urinary excretion of glycolate or glycerate (N = 7), or complete pyridoxine responsiveness (N = 2). Six PHI and five PHII patients had measurements of calcium oxalate crystalluria, urine supersaturation, and urine inhibition of calcium oxalate crystal formation. RESULTS: PHI and PHII did not differ in age at the onset of symptoms, initial serum creatinine, or plasma oxalate concentration. Urine oxalate excretion rates were higher in PHI (2.19 +/- 0.61 mmol/1.73 m2/24 hours) than PHII (1.61 +/- 0.43, P = 0.04). Urine osmolality, calcium, citrate, and magnesium concentrations were lower in PHI than PHII (P = 0.001, P = 0.019, P = 0.0002, P = 0.03, respectively). Crystalluria scores and calcium oxalate inhibitory activity of the urine did not differ between PHI and PHII. Calcium oxalate supersaturation in the urine was less in PHI (7.3 +/- 1.9) compared with PHII (14.0 +/- 3.3, P = 0.002). During follow-up of 10.3 +/- 9. 6 years in PHI and 18.1 +/- 5.6 years in PHII, stone-forming activity and stone procedures were more frequent in PHI than PHII (P < 0.01 and P = 0.01, respectively). Four of 12 PHI compared with 0 of 8 PHII patients progressed to end-stage renal disease (P = 0.03). CONCLUSION: The severity of disease expression is greater in type I primary hyperoxaluria than in type II. The difference may be due to greater oxalate excretion and lower concentrations of urine citrate and magnesium in patients with PHI compared with PHII. (+info)Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children. (6/103)
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is a rare condition in which deficiency of the liver enzyme alanine:glyoxylate aminotransferase leads to renal failure and systemic oxalosis. Combined liver-kidney transplantation (LKT) is recommended for end-stage renal failure (ESRF) in adults, but management of infants and young children is controversial. We retrospectively reviewed six children who underwent LKT for PH1. METHODS: The median age at diagnosis was 1.8 years (range 3 weeks to 7 years). Two children presented with severe infantile oxalosis at 3 and 9 weeks, five patients had ESRF with nephrocalcinosis and systemic oxalosis, (median duration of dialysis 1.3 years), and one had progressive chronic renal failure. Four children underwent combined LKT, one child staged liver then kidney, and one infant had an isolated liver transplant. The median age at transplantation was 8.9 years (range 1.7-15 years). RESULTS: Overall patient survival was four out of six. The two infants with PH1 and severe systemic oxalosis died (2 and 3 weeks post-transplant) due to cardiovascular oxalosis and sepsis. The other four children are well at median follow-up of 10 months (range 6 months to 7.4 years). No child developed hepatic rejection and all have normal liver function. Renal rejection occurred in three patients. Despite maximal medical management, oxalate deposits recurred in all renal grafts, contributing to graft loss in one (one of the infants who died), and significant dysfunction requiring haemodialysis post-transplant for 6 months. CONCLUSIONS: LKT is effective therapy for primary oxalosis with ESRF but has a high morbidity and mortality rate in children who present in infancy with nephrocalcinosis and systemic oxalosis. We feel that earlier LKT, or pre-emptive liver transplantation, may be a better therapeutic strategy to improve the outlook for these patients. (+info)Renal complications of jejuno-ileal bypass for obesity. (7/103)
Jejuno-ileal bypass has until recently been an accepted treatment for refractory morbid obesity. Although hyperoxaluria causing renal tract calculi is a well-recognized complication, we describe eight patients who developed significant renal failure attributable to hyperoxaluria resulting from this procedure, three requiring renal replacement therapy. We review the literature, describing 18 other cases with renal failure, the mechanisms of hyperoxaluria and its treatment. Because reversal of the bypass may result in stabilization or partial improvement of renal function, these patients require long-term follow-up of renal function. (+info)Sensitivity to meat protein intake and hyperoxaluria in idiopathic calcium stone formers. (8/103)
BACKGROUND: High protein intake is an accepted risk factor for renal stone disease. Whether meat protein intake affects oxaluria, however, remains controversial in healthy subjects and in stone formers. This study was designed (1) to test the oxaluric response to a meat protein load in male recurrent idiopathic calcium stone formers (ICSFs) with and without mild metabolic hyperoxaluria (MMH and non-MMH, respectively), as well as in healthy controls, and (2) to seek for possible disturbed vitamin B(6) metabolism in MMH, in analogy with primary hyperoxaluria. METHODS: Twelve MMH, 8 non-MMH, and 13 healthy males were studied after five days on a high meat protein diet (HPD; 700 g meat/fish daily) following a run-in phase of five days on a moderate protein diet (MPD; 160 g meat/fish daily). In both diets, oxalate-rich nutrients were avoided, as well as sweeteners and vitamin C-containing medicines. Twenty-four-hour urinary excretion of oxalate was measured on the last day of each period, along with 4-pyridoxic acid (U(4PA)) and markers of protein intake, that is, urea, phosphate, uric acid, and sulfate. Serum pyridoxal 5' phosphate (S(P5P)) was measured after protein loading. RESULTS: Switching from MPD (0.97 +/- 0.18 g protein/kg/day) to HPD (2.26 +/- 0.38 g protein/kg/day) led to the expected rise in the urinary excretion rates of all markers of protein intake in all subjects. Concurrently, the mean urinary excretion of oxalate increased in ICSFs taken as a whole (+73 +/- 134 micromol/24 h, P = 0.024) as well as in the MMH subgroup (+100 +/- 144 micromol/24 h, P = 0.034) but not in controls (-17 +/- 63 micromol/24 h). In seven ICSFs (4 MMH and 3 non-MMH) but in none of the healthy controls (P = 0.016, chi square), an increment in oxaluria was observed and considered as significant based on the intra-assay coefficient of variation at our laboratory (8.5%). There was no difference in S(P5P)nd U(4PA)etween the groups after protein loading. CONCLUSION: Approximately one third of ICSFs with or without so-called MMH are sensitive to meat protein in terms of oxalate excretion, as opposed to healthy subjects. Mechanisms underlying this sensitivity to meat protein remain to be elucidated and do not seem to involve vitamin B(6) deficiency. (+info)Hyperoxaluria is a medical condition characterized by an excessive excretion of oxalate in the urine. Oxalate is a naturally occurring substance found in some foods and can also be produced by the body. When oxalate combines with calcium in the urine, it can form kidney stones or calcium oxalate deposits in the kidneys and other tissues, leading to kidney damage or systemic oxalosis. There are three types of hyperoxaluria: primary, secondary, and enteric. Primary hyperoxaluria is caused by genetic defects that affect the body's ability to regulate oxalate production, while secondary hyperoxaluria results from increased dietary intake or absorption of oxalate, or from other medical conditions. Enteric hyperoxaluria occurs in individuals with malabsorption syndromes, such as inflammatory bowel disease or after gastric bypass surgery, where excessive amounts of oxalate are absorbed from the gut into the bloodstream and excreted in the urine.
Primary hyperoxaluria is a rare genetic disorder characterized by overproduction of oxalate in the body due to mutations in specific enzymes involved in oxalate metabolism. There are three types of primary hyperoxaluria (PH1, PH2, and PH3), with PH1 being the most common and severe form.
In primary hyperoxaluria type 1 (PH1), there is a deficiency or dysfunction in the enzyme alanine-glyoxylate aminotransferase (AGT), which leads to an accumulation of glyoxylate. Glyoxylate is then converted to oxalate, resulting in increased oxalate production. Oxalate is a compound that naturally occurs in the body but is primarily excreted through the kidneys. When there is an overproduction of oxalate, it can lead to the formation of calcium oxalate crystals in various tissues, including the kidneys. This can cause recurrent kidney stones, nephrocalcinosis (calcium deposits in the kidneys), and eventually chronic kidney disease or end-stage renal failure.
Primary hyperoxaluria type 2 (PH2) is caused by a deficiency or dysfunction in the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR), leading to an accumulation of glyoxylate, which is subsequently converted to oxalate. PH2 has a milder clinical presentation compared to PH1.
Primary hyperoxaluria type 3 (PH3) is a rare form caused by mutations in the gene HOGA1, which encodes for 4-hydroxy-2-oxoglutarate aldolase. This enzyme deficiency results in an increase in glyoxylate and, subsequently, oxalate production.
Early diagnosis and management of primary hyperoxaluria are crucial to prevent or slow down the progression of kidney damage. Treatment options include increased fluid intake, medications to reduce stone formation (such as potassium citrate), and in some cases, liver-kidney transplantation.
Oxalates, also known as oxalic acid or oxalate salts, are organic compounds that contain the functional group called oxalate. Oxalates are naturally occurring substances found in various foods such as spinach, rhubarb, nuts, and seeds. They can also be produced by the body as a result of metabolism.
In the body, oxalates can bind with calcium and other minerals to form crystals, which can accumulate in various tissues and organs, including the kidneys. This can lead to the formation of kidney stones, which are a common health problem associated with high oxalate intake or increased oxalate production in the body.
It is important for individuals with a history of kidney stones or other kidney problems to monitor their oxalate intake and limit consumption of high-oxalate foods. Additionally, certain medical conditions such as hyperoxaluria, a rare genetic disorder that causes increased oxalate production in the body, may require medical treatment to reduce oxalate levels and prevent complications.
Calcium oxalate is a chemical compound with the formula CaC2O4. It is the most common type of stone found in kidneys, also known as kidney stones. Calcium oxalate forms when there is too much calcium or oxalate in the urine. This can occur due to various reasons such as dietary habits, dehydration, medical conditions like hyperparathyroidism, or genetic factors.
Calcium oxalate stones are hard and crystalline and can cause severe pain during urination or while passing through the urinary tract. They may also lead to other symptoms like blood in the urine, nausea, vomiting, or fever. Prevention strategies for calcium oxalate stones include staying hydrated, following a balanced diet, and taking prescribed medications to control the levels of calcium and oxalate in the body.
Nephrolithiasis is a medical term that refers to the presence of stones or calculi in the kidney. These stones can form anywhere in the urinary tract, including the kidneys, ureters, bladder, and urethra. Nephrolithiasis is also commonly known as kidney stones.
Kidney stones are hard deposits made up of minerals and salts that crystallize in the urine. They can vary in size from tiny sand-like particles to larger pebble or even golf ball-sized masses. Kidney stones can cause pain, bleeding, and infection if they block the flow of urine through the urinary tract.
The formation of kidney stones is often associated with a variety of factors such as dehydration, high levels of calcium, oxalate, or uric acid in the urine, family history, obesity, and certain medical conditions like gout or inflammatory bowel disease. Treatment for nephrolithiasis depends on the size and location of the stone, as well as the severity of symptoms. Small stones may pass spontaneously with increased fluid intake, while larger stones may require medication, shock wave lithotripsy, or surgical removal.
Transaminases, also known as aminotransferases, are a group of enzymes found in various tissues of the body, particularly in the liver, heart, muscle, and kidneys. They play a crucial role in the metabolism of amino acids, the building blocks of proteins.
There are two major types of transaminases: aspartate aminotransferase (AST) and alanine aminotransferase (ALT). Both enzymes are normally present in low concentrations in the bloodstream. However, when tissues that contain these enzymes are damaged or injured, such as during liver disease or muscle damage, the levels of AST and ALT in the blood may significantly increase.
Measurement of serum transaminase levels is a common laboratory test used to assess liver function and detect liver injury or damage. Increased levels of these enzymes in the blood can indicate conditions such as hepatitis, liver cirrhosis, drug-induced liver injury, heart attack, and muscle disorders. It's important to note that while elevated transaminase levels may suggest liver disease, they do not specify the type or cause of the condition, and further diagnostic tests are often required for accurate diagnosis and treatment.
Kidney calculi, also known as kidney stones, are hard deposits made of minerals and salts that form inside your kidneys. They can range in size from a grain of sand to a golf ball. When they're small enough, they can be passed through your urine without causing too much discomfort. However, larger stones may block the flow of urine, causing severe pain and potentially leading to serious complications such as urinary tract infections or kidney damage if left untreated.
The formation of kidney calculi is often associated with factors like dehydration, high levels of certain minerals in your urine, family history, obesity, and certain medical conditions such as gout or inflammatory bowel disease. Symptoms of kidney stones typically include severe pain in the back, side, lower abdomen, or groin; nausea and vomiting; fever and chills if an infection is present; and blood in the urine. Treatment options depend on the size and location of the stone but may include medications to help pass the stone, shock wave lithotripsy to break up the stone, or surgical removal of the stone in severe cases.
Nephrocalcinosis is a medical condition characterized by the deposition of calcium salts in the renal parenchyma, specifically within the tubular epithelial cells and interstitium of the kidneys. This process can lead to chronic inflammation, tissue damage, and ultimately impaired renal function if left untreated.
The condition is often associated with metabolic disorders such as hyperparathyroidism, distal renal tubular acidosis, or hyperoxaluria; medications like loop diuretics, corticosteroids, or calcineurin inhibitors; and chronic kidney diseases. The diagnosis of nephrocalcinosis is typically made through imaging studies such as ultrasound, CT scan, or X-ray. Treatment usually involves addressing the underlying cause, modifying dietary habits, and administering medications to control calcium levels in the body.
"Oxalobacter formigenes" is a type of gram-negative, anaerobic bacteria that resides in the human gastrointestinal tract. It is commonly found in the large intestine and plays a role in the metabolism of oxalate, a compound found in many foods that can contribute to kidney stone formation when present in high levels in the body.
"Oxalobacter formigenes" has the ability to break down and utilize oxalate as a source of energy, which can help to reduce the amount of oxalate that is absorbed into the bloodstream and excreted by the kidneys. Some research suggests that the presence of "Oxalobacter formigenes" in the gut may be associated with a lower risk of kidney stone formation, although more studies are needed to confirm this association.
It's worth noting that while "Oxalobacter formigenes" is considered a beneficial bacteria, it is not currently used as a probiotic or therapeutic agent in clinical practice.
Urolithiasis is the formation of stones (calculi) in the urinary system, which includes the kidneys, ureters, bladder, and urethra. These stones can be composed of various substances such as calcium oxalate, calcium phosphate, uric acid, or struvite. The presence of urolithiasis can cause symptoms like severe pain in the back or side, nausea, vomiting, fever, and blood in the urine. The condition can be managed with medications, increased fluid intake, and in some cases, surgical intervention may be required to remove the stones.
Oxalic acid is not a medical term, but it is a chemical compound with the formula HOOC-COOH. It is a white crystalline solid that is soluble in water and polar organic solvents. Medically, oxalic acid is relevant due to its presence in certain foods and its potential to form calcium oxalate stones in the kidneys when excreted in urine.
Hyperoxaluria is a medical condition characterized by increased levels of oxalate in the urine, which can lead to the formation of kidney stones. This condition can be caused by genetic factors or excessive intake of oxalate-rich foods such as spinach, rhubarb, and certain nuts and beans. In severe cases, it may require medical treatment to reduce oxalate levels in the body.
Hypercalciuria is a medical condition characterized by an excessive amount of calcium in the urine. It can occur when the body absorbs too much calcium from food, or when the bones release more calcium than usual. In some cases, it may be caused by certain medications, kidney disorders, or genetic factors.
Hypercalciuria can increase the risk of developing kidney stones and other kidney problems. It is often diagnosed through a 24-hour urine collection test that measures the amount of calcium in the urine. Treatment may include changes in diet, increased fluid intake, and medications to help reduce the amount of calcium in the urine.
Urinary calculi, also known as kidney stones or nephrolithiasis, are hard deposits made of minerals and salts that form inside the urinary system. These calculi can develop in any part of the urinary system, which includes the kidneys, ureters, bladder, and urethra.
The formation of urinary calculi typically occurs when there is a concentration of certain substances, such as calcium, oxalate, uric acid, or struvite, in the urine. When these substances become highly concentrated, they can crystallize and form small seeds that gradually grow into larger stones over time.
The size of urinary calculi can vary from tiny, sand-like particles to large stones that can fill the entire renal pelvis. The symptoms associated with urinary calculi depend on the stone's size, location, and whether it is causing a blockage in the urinary tract. Common symptoms include severe pain in the flank, lower abdomen, or groin; nausea and vomiting; blood in the urine (hematuria); fever and chills; and frequent urge to urinate or painful urination.
Treatment for urinary calculi depends on the size and location of the stone, as well as the severity of symptoms. Small stones may pass spontaneously with increased fluid intake and pain management. Larger stones may require medical intervention, such as extracorporeal shock wave lithotripsy (ESWL), ureteroscopy, or percutaneous nephrolithotomy (PCNL) to break up or remove the stone. Preventive measures include maintaining adequate hydration, modifying dietary habits, and taking medications to reduce the risk of stone formation.
Glycolates are a type of chemical compound that contain the group COOCH2, which is derived from glycolic acid. In a medical context, glycolates are often used in dental and medical materials as they can be biodegradable and biocompatible. For example, they may be used in controlled-release drug delivery systems or in bone cement. However, it's important to note that some glycolate compounds can also be toxic if ingested or otherwise introduced into the body in large amounts.
Ethylene glycol is a colorless, odorless, syrupy liquid with a sweet taste, which makes it appealing to animals and children. It is commonly used in the manufacture of antifreeze, coolants, deicers, hydraulic brake fluids, solvents, and other industrial products. Ethylene glycol is also found in some household items such as certain types of wood stains, paints, and cosmetics.
Ingesting even small amounts of ethylene glycol can be harmful or fatal to humans and animals. It is metabolized by the body into toxic substances that can cause damage to the central nervous system, heart, kidneys, and other organs. Symptoms of ethylene glycol poisoning may include nausea, vomiting, abdominal pain, decreased level of consciousness, seizures, coma, acidosis, increased heart rate, low blood pressure, and kidney failure.
If you suspect that someone has ingested ethylene glycol, it is important to seek medical attention immediately. Treatment typically involves administering a medication called fomepizole or ethanol to inhibit the metabolism of ethylene glycol, as well as providing supportive care such as fluid replacement and dialysis to remove the toxic substances from the body.
Glyoxylates are organic compounds that are intermediates in various metabolic pathways, including the glyoxylate cycle. The glyoxylate cycle is a modified version of the Krebs cycle (also known as the citric acid cycle) and is found in plants, bacteria, and some fungi.
Glyoxylates are formed from the breakdown of certain amino acids or from the oxidation of one-carbon units. They can be converted into glycine, an important amino acid involved in various metabolic processes. In the glyoxylate cycle, glyoxylates are combined with acetyl-CoA to form malate and succinate, which can then be used to synthesize glucose or other organic compounds.
Abnormal accumulation of glyoxylates in the body can lead to the formation of calcium oxalate crystals, which can cause kidney stones and other health problems. Certain genetic disorders, such as primary hyperoxaluria, can result in overproduction of glyoxylates and increased risk of kidney stone formation.
A jejunoileal bypass is a surgical procedure that was once used to treat morbid obesity, but it is now rarely performed due to the high risk of serious complications. This procedure involves dividing the small intestine into two parts: the proximal jejunum and the distal ileum. The proximal jejunum is then connected to the colon, bypassing a significant portion of the small intestine where nutrient absorption occurs.
The goal of this surgery was to reduce the amount of food and nutrients that could be absorbed, leading to weight loss. However, it was found that patients who underwent jejunoileal bypass were at risk for developing severe malnutrition, vitamin deficiencies, bone disease, kidney stones, and liver problems. Additionally, many patients experienced unpleasant side effects such as diarrhea, bloating, and foul-smelling stools. Due to these significant risks and limited benefits, jejunoileal bypass has largely been replaced by other weight loss surgeries such as gastric bypass and sleeve gastrectomy.
Steatorrhea is a medical condition characterized by the excessive amount of fat in stools, which can make them appear greasy, frothy, and foul-smelling. This occurs due to poor absorption of dietary fats in the intestines, a process called malabsorption. The most common causes of steatorrhea include conditions that affect the pancreas, such as cystic fibrosis or chronic pancreatitis, celiac disease, and other gastrointestinal disorders. Symptoms associated with steatorrhea may include abdominal pain, bloating, diarrhea, weight loss, and vitamin deficiencies due to malabsorption of fat-soluble vitamins (A, D, E, K). The diagnosis typically involves testing stool samples for fat content and further investigations to determine the underlying cause. Treatment is focused on addressing the underlying condition and providing dietary modifications to manage symptoms.
A cystostomy is a surgical procedure that creates an opening through the wall of the bladder to allow urine to drain out. This opening, or stoma, is usually connected to a external collection device, such as a bag or a tube. The purpose of a cystostomy is to provide a stable and reliable way for urine to leave the body when a person is unable to urinate naturally due to injury, illness, or other medical conditions that affect bladder function.
There are several types of cystostomies, including temporary and permanent procedures. A temporary cystostomy may be performed as a short-term solution while a patient recovers from surgery or an injury, or when a person is unable to urinate temporarily due to an obstruction in the urinary tract. In these cases, the cystostomy can be closed once the underlying issue has been resolved.
A permanent cystostomy may be recommended for individuals who have irreversible bladder damage or dysfunction, such as those with spinal cord injuries, neurological disorders, or certain types of cancer. In these cases, a cystostomy can help improve quality of life by allowing for regular and reliable urinary drainage, reducing the risk of complications like urinary tract infections and kidney damage.
It's important to note that a cystostomy is a significant surgical procedure that carries risks and potential complications, such as bleeding, infection, and injury to surrounding tissues. As with any surgery, it's essential to discuss the benefits and risks of a cystostomy with a healthcare provider to determine whether it's the right option for an individual's specific medical needs.
Lactobacillus brevis is a species of gram-positive, rod-shaped, facultatively anaerobic bacteria that belongs to the lactic acid bacteria group. It is commonly found in various environments such as plants, soil, and fermented foods like sauerkraut, pickles, and sourdough bread. Lactobacillus brevis is also part of the normal microbiota of the human gastrointestinal tract and vagina.
This bacterium is known for its ability to produce lactic acid as a metabolic end-product, which contributes to the preservation and fermentation of food. Lactobacillus brevis can also produce other compounds with potential health benefits, such as bacteriocins, which have antibacterial properties against certain pathogenic bacteria.
In some cases, Lactobacillus brevis has been investigated for its probiotic potential, although more research is needed to fully understand its effects on human health. It's important to note that while some strains of Lactobacillus brevis may have beneficial properties, others can cause infections in individuals with weakened immune systems or underlying medical conditions.
Hydroxypyruvate Reductase is an enzyme involved in the metabolism of carbohydrates. Specifically, it catalyzes the conversion of hydroxypyruvate to glycerate during the photorespiratory cycle in plants and some bacteria. This reaction is a part of the process that recovers carbon from the 2-phosphoglycolate generated by the oxygenase activity of ribulose-1,5-bisphosphate carboxylase/oxygenase (RuBisCO) during photosynthesis.
The enzyme Hydroxypyruvate Reductase belongs to the family of oxidoreductases, more specifically those acting on the CH-OH group of donor with NAD+ or NADP+ as acceptor. The systematic name of this enzyme class is hydroxypyruvate:NAD(P)+ 2-oxidoreductase. Other common names include D-glycerate dehydrogenase, serine glyoxalate transaminase, and L-serine transaminase.
Hydroxyproline is not a medical term per se, but it is a significant component in the medical field, particularly in the study of connective tissues and collagen. Here's a scientific definition:
Hydroxyproline is a modified amino acid that is formed by the post-translational modification of the amino acid proline in collagen and some other proteins. This process involves the addition of a hydroxyl group (-OH) to the proline residue, which alters its chemical properties and contributes to the stability and structure of collagen fibers. Collagen is the most abundant protein in the human body and is a crucial component of connective tissues such as tendons, ligaments, skin, and bones. The presence and quantity of hydroxyproline can serve as a marker for collagen turnover and degradation, making it relevant to various medical and research contexts, including the study of diseases affecting connective tissues like osteoarthritis, rheumatoid arthritis, and Ehlers-Danlos syndrome.
Potassium citrate is a medication and dietary supplement that contains potassium and citrate. Medically, it is used to treat and prevent kidney stones, as well as to manage metabolic acidosis in people with chronic kidney disease. Potassium citrate works by increasing the pH of urine, making it less acidic, which can help to dissolve certain types of kidney stones and prevent new ones from forming. It is also used as an alkalizing agent in the treatment of various conditions that cause acidosis.
In addition to its medical uses, potassium citrate is also found naturally in some fruits and vegetables, such as oranges, grapefruits, lemons, limes, and spinach. It is often used as a food additive and preservative, and can be found in a variety of processed foods and beverages.
It's important to note that taking too much potassium citrate can lead to high levels of potassium in the blood, which can be dangerous. Therefore, it is important to follow the dosage instructions carefully and talk to your doctor before taking this medication if you have any medical conditions or are taking any other medications.
Oxo-acid lyases are a class of enzymes that catalyze the cleavage of a carbon-carbon bond in an oxo-acid to give a molecule with a carbonyl group and a carbanion, which then reacts non-enzymatically with a proton to form a new double bond. The reaction is reversible, and the enzyme can also catalyze the reverse reaction.
Oxo-acid lyases play important roles in various metabolic pathways, such as the citric acid cycle, glyoxylate cycle, and the degradation of certain amino acids. These enzymes are characterized by the presence of a conserved catalytic mechanism involving a nucleophilic attack on the carbonyl carbon atom of the oxo-acid substrate.
The International Union of Biochemistry and Molecular Biology (IUBMB) has classified oxo-acid lyases under EC 4.1.3, which includes enzymes that catalyze the formation of a carbon-carbon bond by means other than carbon-carbon bond formation to an enolate or carbonion, a carbanionic fragment, or a Michael acceptor.
Citric acid is a weak organic acid that is widely found in nature, particularly in citrus fruits such as lemons and oranges. Its chemical formula is C6H8O7, and it exists in a form known as a tribasic acid, which means it can donate three protons in chemical reactions.
In the context of medical definitions, citric acid may be mentioned in relation to various physiological processes, such as its role in the Krebs cycle (also known as the citric acid cycle), which is a key metabolic pathway involved in energy production within cells. Additionally, citric acid may be used in certain medical treatments or therapies, such as in the form of citrate salts to help prevent the formation of kidney stones. It may also be used as a flavoring agent or preservative in various pharmaceutical preparations.
Chronic kidney failure, also known as chronic kidney disease (CKD) stage 5 or end-stage renal disease (ESRD), is a permanent loss of kidney function that occurs gradually over a period of months to years. It is defined as a glomerular filtration rate (GFR) of less than 15 ml/min, which means the kidneys are filtering waste and excess fluids at less than 15% of their normal capacity.
CKD can be caused by various underlying conditions such as diabetes, hypertension, glomerulonephritis, polycystic kidney disease, and recurrent kidney infections. Over time, the damage to the kidneys can lead to a buildup of waste products and fluids in the body, which can cause a range of symptoms including fatigue, weakness, shortness of breath, nausea, vomiting, and confusion.
Treatment for chronic kidney failure typically involves managing the underlying condition, making lifestyle changes such as following a healthy diet, and receiving supportive care such as dialysis or a kidney transplant to replace lost kidney function.
Crystallization is a process in which a substance transitions from a liquid or dissolved state to a solid state, forming a crystal lattice. In the medical context, crystallization can refer to the formation of crystals within the body, which can occur under certain conditions such as changes in pH, temperature, or concentration of solutes. These crystals can deposit in various tissues and organs, leading to the formation of crystal-induced diseases or disorders.
For example, in patients with gout, uric acid crystals can accumulate in joints, causing inflammation, pain, and swelling. Similarly, in nephrolithiasis (kidney stones), minerals in the urine can crystallize and form stones that can obstruct the urinary tract. Crystallization can also occur in other medical contexts, such as in the formation of dental calculus or plaque, and in the development of cataracts in the eye.
Kidney transplantation is a surgical procedure where a healthy kidney from a deceased or living donor is implanted into a patient with end-stage renal disease (ESRD) or permanent kidney failure. The new kidney takes over the functions of filtering waste and excess fluids from the blood, producing urine, and maintaining the body's electrolyte balance.
The transplanted kidney is typically placed in the lower abdomen, with its blood vessels connected to the recipient's iliac artery and vein. The ureter of the new kidney is then attached to the recipient's bladder to ensure proper urine flow. Following the surgery, the patient will require lifelong immunosuppressive therapy to prevent rejection of the transplanted organ by their immune system.
Alcohol oxidoreductases are a class of enzymes that catalyze the oxidation of alcohols to aldehydes or ketones, while reducing nicotinamide adenine dinucleotide (NAD+) to NADH. These enzymes play an important role in the metabolism of alcohols and other organic compounds in living organisms.
The most well-known example of an alcohol oxidoreductase is alcohol dehydrogenase (ADH), which is responsible for the oxidation of ethanol to acetaldehyde in the liver during the metabolism of alcoholic beverages. Other examples include aldehyde dehydrogenases (ALDH) and sorbitol dehydrogenase (SDH).
These enzymes are important targets for the development of drugs used to treat alcohol use disorder, as inhibiting their activity can help to reduce the rate of ethanol metabolism and the severity of its effects on the body.
Microbodies are small, membrane-bound organelles found in the cells of eukaryotic organisms. They typically measure between 0.2 to 0.5 micrometers in diameter and play a crucial role in various metabolic processes, particularly in the detoxification of harmful substances and the synthesis of lipids.
There are several types of microbodies, including:
1. Peroxisomes: These are the most common type of microbody. They contain enzymes that help break down fatty acids and amino acids, producing hydrogen peroxide as a byproduct. Another set of enzymes within peroxisomes then converts the harmful hydrogen peroxide into water and oxygen, thus detoxifying the cell.
2. Glyoxysomes: These microbodies are primarily found in plants and some fungi. They contain enzymes involved in the glyoxylate cycle, a metabolic pathway that helps convert stored fats into carbohydrates during germination.
3. Microbody-like particles (MLPs): These are smaller organelles found in certain protists and algae. Their functions are not well understood but are believed to be involved in lipid metabolism.
It is important to note that microbodies do not have a uniform structure or function across all eukaryotic cells, and their specific roles can vary depending on the organism and cell type.
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