Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Amino Acid Metabolism, Inborn Errors: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.Multiple Acyl Coenzyme A Dehydrogenase Deficiency: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).GlutaratesCarboxylic Acids: Organic compounds containing the carboxy group (-COOH). This group of compounds includes amino acids and fatty acids. Carboxylic acids can be saturated, unsaturated, or aromatic.Glutaryl-CoA Dehydrogenase: A flavoprotein enzyme that is responsible for the catabolism of LYSINE; HYDROXYLYSINE; and TRYPTOPHAN. It catalyzes the oxidation of GLUTARYL-CoA to crotonoyl-CoA using FAD as a cofactor. Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase.Blogging: Using an INTERNET based personal journal which may consist of reflections, comments, and often hyperlinks.Brain Diseases, Metabolic: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.Brain Diseases, Metabolic, Inborn: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.Barth Syndrome: Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.Cataract: Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)Neutropenia: A decrease in the number of NEUTROPHILS found in the blood.Urocanic Acid: 4-Imidazoleacrylic acid.Histidine Ammonia-Lyase: An enzyme that catalyzes the first step of histidine catabolism, forming UROCANIC ACID and AMMONIA from HISTIDINE. Deficiency of this enzyme is associated with elevated levels of serum histidine and is called histidinemia (AMINO ACID METABOLISM, INBORN ERRORS).Urocanate Hydratase: An enzyme that catalyzes the conversion of 4,5-dihydro-4-oxo-5-imidazolepropanoate to urocanate and water. EC 4.2.1.49.FIGLU Test: A urine test for formiminoglutamic acid, an intermediate metabolite in L-histidine catabolism in the conversion of L-histidine to L-glutamic acid. It may be an indicator of vitamin B12 or folic acid deficiency or liver disease.Ammonia-Lyases: Enzymes that catalyze the formation of a carbon-carbon double bond by the elimination of AMMONIA. EC 4.3.1.Histidine: An essential amino acid that is required for the production of HISTAMINE.Imidazoles: Compounds containing 1,3-diazole, a five membered aromatic ring containing two nitrogen atoms separated by one of the carbons. Chemically reduced ones include IMIDAZOLINES and IMIDAZOLIDINES. Distinguish from 1,2-diazole (PYRAZOLES).2-Aminoadipate Transaminase: A PYRIDOXAL PHOSPHATE containing enzyme that catalyzes the transfer of amino group of L-2-aminoadipate onto 2-oxoglutarate to generate 2-oxoadipate and L-GLUTAMATE.Hydro-Lyases: Enzymes that catalyze the breakage of a carbon-oxygen bond leading to unsaturated products via the removal of water. EC 4.2.1.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Glossitis: Inflammation of the tongue.Blindness, Cortical: Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)Anemia, Megaloblastic: A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Hemolytic-Uremic Syndrome: A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.Purpura, Thrombotic Thrombocytopenic: An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE.Thrombotic Microangiopathies: Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation.Electronic Mail: Messages between computer users via COMPUTER COMMUNICATION NETWORKS. This feature duplicates most of the features of paper mail, such as forwarding, multiple copies, and attachments of images and other file types, but with a speed advantage. The term also refers to an individual message sent in this way.Science: The study of natural phenomena by observation, measurement, and experimentation.Problem-Based Learning: Instructional use of examples or cases to teach using problem-solving skills and critical thinking.Curriculum: A course of study offered by an educational institution.Gastrointestinal Diseases: Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.Jamaica: An island in the Greater Antilles in the West Indies. Its capital is Kingston. It was discovered in 1494 by Columbus and was a Spanish colony 1509-1655 until captured by the English. Its flourishing slave trade was abolished in the 19th century. It was a British colony 1655-1958 and a territory of the West Indies Federation 1958-62. It achieved full independence in 1962. The name is from the Arawak Xaymaca, rich in springs or land of springs. (From Webster's New Geographical Dictionary, 1988, p564 & Room, Brewer's Dictionary of Names, 1992, p267)Hypoglycemia: A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH.Dicarboxylic AcidsAlexander Disease: Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.Twins: Two individuals derived from two FETUSES that were fertilized at or about the same time, developed in the UTERUS simultaneously, and born to the same mother. Twins are either monozygotic (TWINS, MONOZYGOTIC) or dizygotic (TWINS, DIZYGOTIC).Diseases in Twins: Disorders affecting TWINS, one or both, at any age.Siblings: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)Optic Atrophy: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.Meglutol: An antilipemic agent which lowers cholesterol, triglycerides, serum beta-lipoproteins and phospholipids. It acts by interfering with the enzymatic steps involved in the conversion of acetate to hydroxymethylglutaryl coenzyme A as well as inhibiting the activity of HYDROXYMETHYLGLUTARYL COA REDUCTASES which is the rate limiting enzyme in the biosynthesis of cholesterol.Tonic Pupil: A pupillary abnormality characterized by a poor pupillary light reaction, reduced accommodation, iris sector palsies, an enhanced pupillary response to near effort that results in a prolonged, "tonic" constriction, and slow pupillary redilation. This condition is associated with injury to the postganglionic parasympathetic innervation to the pupil. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp492-500)Methylmalonyl-CoA Mutase: An enzyme that catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA by transfer of the carbonyl group. It requires a cobamide coenzyme. A block in this enzymatic conversion leads to the metabolic disease, methylmalonic aciduria. EC 5.4.99.2.CobamidesMalonatesVitamin B 12: A cobalt-containing coordination compound produced by intestinal micro-organisms and found also in soil and water. Higher plants do not concentrate vitamin B 12 from the soil and so are a poor source of the substance as compared with animal tissues. INTRINSIC FACTOR is important for the assimilation of vitamin B 12.Dog Diseases: Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.Vitamin B 12 Deficiency: A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)Intrinsic Factor: A glycoprotein secreted by the cells of the GASTRIC GLANDS that is required for the absorption of VITAMIN B 12 (cyanocobalamin). Deficiency of intrinsic factor leads to VITAMIN B 12 DEFICIENCY and ANEMIA, PERNICIOUS.Dysuria: Painful URINATION. It is often associated with infections of the lower URINARY TRACT.
... propionic aciduria, methylmalonic aciduria, and isovaleric aciduria: long-term outcome and effects of expanded newborn ... Organic acidemia, also called organic aciduria, is a term used to classify a group of metabolic disorders which disrupt normal ... Neonatal management of organic acidurias. Clinical update". J Inherit Metab Dis. 7 (Suppl. 1): 2-9. doi:10.1007/978-94-009-5612 ... ACAT1 § Ketothiolase deficiency, another type of OA Ogier de Baulny H, Saudubray JM (2002). "Branched-chain organic acidurias ...
Ogier de Baulny H, Saudubray JM (2002). "Branched-chain organic acidurias". Semin Neonatol. 7 (1): 65-74. doi:10.1053/siny. ...
de Baulny, Helene Ogier; Dionisi-Vici, Carlo; Wendel, Udo (2012). "Branched-chain Organic Acidurias/Acidaemias". In Saudubray, ...
... propionic aciduria, methylmalonic aciduria, and isovaleric aciduria: long-term outcome and effects of expanded newborn ... "Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis". Arch Dis Child. 42: 492-504. doi: ... Methylmalonic acidemia (MMA), also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a ... Higginbottom MC, Sweetman L, Nyhan WL (1978). "A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and ...
AUH 3-Methylglutaconic aciduria type III; 258501; OPA3 3-Methylglutaconic aciduria type V; 610198; DNAJC19 46XX true ... MTR Methylmalonic aciduria and homocystinuria, cblC type; 277400; MMACHC Methylmalonic aciduria and homocystinuria, cblD type; ... LMBRD1 Methylmalonic aciduria due to transcobalamin receptor defect; 613646; CD320 Methylmalonic aciduria, cblD type, variant 2 ... 277410; C2orf25 Methylmalonic aciduria, vitamin B12-responsive; 251100; MMAA Methylmalonic aciduria, vitamin B12-responsive, ...
... , or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene. It is ... It is type of 3-methylglutaconic aciduria, the hallmark of which is an increased level in the urinary concentrations of 3- ... Gunay-Aygun, Meral; Huizing, Marjan; Anikster, Yair (1993). "OPA3-Related 3-Methylglutaconic Aciduria". In Roberta A. Pagon, ... List of systemic diseases with ocular manifestations Behr syndrome 3-Methylglutaconic aciduria Mitochondrial Disorders Optic ...
Deodato, F.; Boenzi, S.; Santorelli, F. M.; Dionisi-Vici, C. (2006). "Methylmalonic and propionic aciduria". American Journal ...
Deodato F, Boenzi S, Santorelli FM, Dionisi-Vici C (2006). "Methylmalonic and propionic aciduria". Am J Med Genet C Semin Med ... Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic glycinemia, is an ...
... (RP) is one of the most common forms of inherited retinal degeneration.[5] There are multiple genes that, when mutated, can cause the retinitis pigmentosa phenotype.[10] Inheritance patterns of RP have been identified as autosomal dominant, autosomal recessive, X-linked, and maternally (mitochondrially) acquired, and are dependent on the specific RP gene mutations present in the parental generation.[11] In 1989, a mutation of the gene for rhodopsin, a pigment that plays an essential part in the visual transduction cascade enabling vision in low-light conditions, was identified. The rhodopsin gene encodes a principal protein of photoreceptor outer segments. Mutations in this gene most commonly presents as missense mutations or misfolding of the rhodopsin protein, and most frequently follow autosomal dominant inheritance patterns. Since the discovery of the rhodopsin gene, more than 100 RHO mutations have been identified, accounting for 15% of all types of retinal ...
... also known as 4-hydroxybutyric aciduria or gamma-hydroxybutyric aciduria, is a rare autosomal recessive disorder of the ... 4-hydroxybutyric aciduria)" (pdf). American Journal of Human Genetics. 63 (2): 399-408. doi:10.1086/301964. PMC 1377305 . PMID ... γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and ...
... gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and ... 4-hydroxybutyric aciduria)". American Journal of Human Genetics. 63 (2): 399-408. doi:10.1086/301964. PMC 1377305 . PMID ...
Inherited Pyrimidine Synthesis Disorders: Orotic aciduria. *Inherited DNA Synthesis Disorders. *Toxins and Drugs: *Folic acid ...
Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol ... Bretón Martínez JR, Cánovas Martínez A, Casaña Pérez S, Escribá Alepuz J, Giménez Vázquez F (Oct 2007). "Mevalonic aciduria: ... Mevalonate kinase deficiency, also called mevalonic aciduria and hyper immunoglobin D syndrome is an autosomal recessive ... "Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathy". Pediatr. Neurol. 9 (3): 243-246. doi:10.1016/ ...
"OMIM Entry - # 203750 - ALPHA-METHYLACETOACETIC ACIDURIA". omim.org. Retrieved 2017-07-02. This article incorporates public ...
... (or fumaric aciduria), also known as "Polygamist Down's", is an autosomal recessive metabolic disorder in ... "Fumaric aciduria: clinical and imaging features". Ann. Neurol. 47 (5): 583-8. doi:10.1002/1531-8249(200005)47:5. 3.0.CO;2-Y. ...
Mevalonic aciduria Mevalonic acid PDB: 2X7I​; Oke M, Carter LG, Johnson KA, Liu H, McMahon SA, Yan X, Kerou M, Weikart ND, Kadi ... Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor ... cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria". J. ...
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene ... "Entrez Gene: MMAA methylmalonic aciduria (cobalamin deficiency) cblA type". Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, ... 2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)". Pediatr ... 2009). "Spondylocostal dysostosis associated with methylmalonic aciduria". Genet Test Mol Biomarkers. 13 (2): 181-3. doi: ...
GCDH is deficient in glutaric aciduria type 1. The intermediate 2-oxoadipate is metabolized by 2-oxoadipate dehydrogenase, ... "DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria". American Journal of Human Genetics. 91 (6): 1082-7. doi:10.1016 ...
A buildup of orotic acid can lead to orotic aciduria and acidemia. It may be a symptom of an increased ammonia load due to a ... Orotic aciduria is a cause of megaloblastic anaemia. Magnesium orotate Pyrimidine biosynthesis Rawls, J; Knecht, W; Diekert, K ...
Deficiencies of enzymes involved in pyrimidine synthesis can lead to the genetic disease Orotic aciduria which causes excessive ... Bailey, CJ (2009). "Orotic aciduria and uridine monophosphate synthase: a reappraisal". Journal of Inherited Metabolic Disease ...
"Severe infantile hypotonia with ethylmalonic aciduria: case report". Journal of Child Neurology. 23 (6): 703-5. doi:10.1177/ ...
Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. ... 2007). "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)". Pediatr ... "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type". GeneReviews/NCBI/NIH/UW entry on Methylmalonic ... "Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria". Hum ...
Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing ... 2006). "Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins". Mol. Genet. Metab. ... 2006). "D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related ... 2005). "Mutations in phenotypically mild D-2-hydroxyglutaric aciduria". Ann. Neurol. 58 (4): 626-30. doi:10.1002/ana.20559. ...
Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD (May 2012). "3-Hydroxyisobutyrate aciduria and ... Shield JP, Gough R, Allen J, Newbury-Ecob R (Jul 2001). "3-Hydroxyisobutyric aciduria: phenotypic heterogeneity within a single ... Laboratory studies showed 3-hydroxyisobutyric aciduria and mild lactic acidosis. Many case studies since then have presented ... encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria". ...
In humans, L-2-Hydroxyglutaric aciduria was the first disease linked to a missing metabolite repair enzyme. Mutations in the ... Van Schaftingen, E.; Rzem, R.; Veiga-da-Cunha, M. (2009-04-01). "L: -2-Hydroxyglutaric aciduria, a disorder of metabolite ... and its accumulation in humans causes L-2-Hydroxyglutaric aciduria. The repair enzyme L-2-hydroxyglutarate dehydrogenase ...
Urocanic aciduria, also called urocanate hydratase deficiency or urocanase deficiency,[1] is an autosomal recessive metabolic ... Urocanic aciduria is thought to be relatively benign.[2] Although aggressive behavior and mental retardation have been reported ... Urocanic aciduria has an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and ... In urocanic aciduria, increased urocanic acid in the urine indicates a deficiency of the enzyme urocanase. This enzyme breaks ...
... Common Name(s). 3-methylglutaconic aciduria type I, 3-methylglutaconyl-CoA hydratase ... 3-methylglutaconic aciduria type 1 (3MGA1) is a genetic disorder in which the body cannot get energy from a substance called ... Finding the right clinical trial for 3-methylglutaconic aciduria type I can be challenging. However, with TrialsFinder (which ... Finding the right clinical trial for 3-methylglutaconic aciduria type I can be challenging. However, with TrialsFinder (which ...
3-Methylglutaconic Aciduria, Type II (MGA, Type II). (Variable but typically a 5- to 20-fold increase in an organic acid that ...
One of the processing proteins, MMAA (methylmalonic aciduria type A), is implicated in the mitochondrial assembly of AdoCbl ... One of the processing proteins, MMAA (methylmalonic aciduria type A), is implicated in the mitochondrial assembly of AdoCbl ...
Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Explore symptoms, ... Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may ... Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed ... Mutations in the ASL gene cause argininosuccinic aciduria. This condition belongs to a class of genetic diseases called urea ...
Mutations in the ASL gene cause argininosuccinic aciduria. Argininosuccinic aciduria belongs to a class of genetic diseases ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life ... Argininosuccinic aciduria occurs in approximately 1 in 70,000 live births. Many patients can now be detected on the newborn ... In argininosuccinic aciduria, the enzyme argininosuccinate lyase, involved in the conversion of arginino succinate to arginine ...
HIGHLIGHTS OF PRESCRIBING INFORMATION OF XURIDEN Orotic aciduria hereditary at NIHs Office of Rare Diseases Orotic aciduria ... Orotic aciduria is a disease yielding an excessive excretion of orotic acid in urine. It causes a characteristic form of anemia ... Orotic aciduria is associated with megaloblastic anemia due to decreased pyrimidine synthesis, which leads to decreased ... Winkler JK, Suttle DP (Jul 1988). "Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts ...
Definition of 3-methylglutaconic aciduria. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and ... 3-methylglutaconic aciduria. Pronunciation: methil-gluta-konik asi-dyure-a. Definition: Elevated levels of 3- ...
The greatest challenge of majoring in biology in college was mastering the chemical steps that build up and break down the 20 types of amino acids specified by the genetic code. I could memorize ...
Key words: D-glycerate; D-glyceric aciduria; glycerate kinase; glyceric acid; organic acidurias ... D-Glyceric aciduria was first reported in 1974 in a 2 year-old boy with hypotonia and severe psychomotor retardation (Brandt et ... D-Glyceric aciduria (OMIM 220120) is an autosomal recessive disease of the catabolism pathway of the amino acid serine and, to ... Aciduria D-glicérica. A propósito de un caso y revisión de la bibliografia. Acta Pediatr Esp 68: 79-83. [ Links ] ...
3-methylglutaconic aciduria, type VII. 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and ... Disease - 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia. Basket 0 ...
Background The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are ... Sauer SW, Opp S, Mahringer A et al (2010) Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import ... and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res 66:91-95CrossRefPubMedGoogle ... isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD ...
... glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, ... The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.. Kölker S1, Garcia- ... Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. [J Inherit ... The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are ...
IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria. By Martijn Kranendijk, Eduard A. Struys, Emile van Schaftingen, K ... IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria. By Martijn Kranendijk, Eduard A. Struys, Emile van Schaftingen, K ... IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria Message Subject. (Your Name) has forwarded a page to you from ... germline mutations in IDH2 that alter enzyme residue R140 in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA ...
Methylmalonic Aciduria cblC type with Homocystinuria Human Recombinant, Methylmalonic Aciduria cblD type with Homocystinuria ...
Who is at Risk for Developing Argininosuccinic Aciduria?. Argininosuccinic aciduria is a rare disorder and may be one of many ... What is the Cause of Argininosuccinic Aciduria?. Etiology. Pathophysiology. Argininosuccinic aciduria is caused by mutations in ... Argininosuccinic aciduria is a disorder of the urea acid cycle. Although patients may present at any age, the onset is more ... Argininosuccinic Aciduria [argininosuccinate lyase deficiency. Are You Confident of the Diagnosis?. What you should be alert ...
3-methylglutaconic aciduria type 7. ORPHA:445038. Classification level: Disorder *Synonym(s): *3-methylglutaconic aciduria- ...
In conclusion, it has become evident that tandem mass spectrometry-based newborn screening for glutaric aciduria type I is a ... After implementation of glutaric aciduria type I in an increasing number of countries, and with careful evaluation of disease ... More than 15 years ago glutaric aciduria type I has been included in newborn screening programmes and pilot studies evaluating ... Heringer J, Boy N, Burgard P, Okun JG, Kölker S. Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations. ...
D-2-hydroxyglutaric aciduria type I. Canavan Disease. D-2-hydroxyglutaric aciduria type II. Glutaric aciduria type I. IDH2. ... Cerebral Organic Acidurias, including diseases (Homo sapiens). From WikiPathways. Revision as of 17:50, 13 February 2019 by ... Ontology Term : glutaric aciduria type I pathway added !. 103108. view. 13:07, 13 February 2019. BrittPieters. Ontology Term ... Kvittingen EA, Guldal G, Børsting S, Skalpe IO, Stokke O, Jellum E; N-acetylaspartic aciduria in a child with a progressive ...
Are you sure your patient has glutaric aciduria type I? What are the typical findings for this disease?. Glutaric aciduria type ... Hoffman, GF, Schulze, A. "Chapter 7: Organic Acidurias - subsection Glutaric Aciduria Type I pp.108 - 112 in Sarafoglou K, ... How can glutaric aciduria type I be prevented?. Genetic counseling for known GA-I in a family is that for any known autosomal ... Glutaric aciduria type I (GA-I) is due to deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase, which is involved ...
Mevalonic aciduria because of mutations of the gene for mevalonate kinase causes limited synthesis of isoprenoids, the effects ... Liver transplantation followed by allogeneic hematopoietic stem cell transplantation for atypical mevalonic aciduria.. ...
Organic acid analysis revealed massive glutaric aciduria with elevated concentrations of butyric, isobutyric, n-butyric, and ... A new case of neonatal glutaric aciduria type II is reported. Neonatal acidosis, hypoglycemia, and hyperammonemia were ... Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder Hum Genet. 1981;59(3):263-5. doi: 10.1007/ ... Clinically, biochemically, and genetically glutaric aciduria type II is an heterogeneous disorder. The neonatal form is an X- ...
... methylglutaconic Aciduria, Type I from related diseases, pathways, genes and PTMs with the Novus Bioinformatics Tool. ... [email protected] Aciduria, Type I: Disease Bioinformatics. Research of [email protected] Aciduria, Type I has been linked ... [email protected] Aciduria, Type I is also known as 3-methylglutaconic Aciduria. ... [email protected] Aciduria, Type I Bioinformatics Tool. Laverne is a handy bioinformatics tool to help facilitate scientific ...
Unilateral Aciduria in Renal Artery Stenosis. William H. Hulet, M.D., F.A.C.P. ... Unilateral Aciduria in Renal Artery Stenosis.. Ann Intern Med. ;66:1037. doi: 10.7326/0003-4819-66-5-1037_2 ...
  • One of the processing proteins, MMAA (methylmalonic aciduria type A), is implicated in the mitochondrial assembly of AdoCbl into MUT and is defective in children from the cblA complementation group of cobalamin disorders. (ox.ac.uk)
  • Background: Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl CoA carboxylase and methylmalonyl CoA mutase respectively. (uchile.cl)
  • OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. (edu.au)
  • A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. (xenbase.org)
  • The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase. (wikipathways.org)
  • A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. (xenbase.org)
  • A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. (xenbase.org)