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Argininosuccinic aciduria is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in the blood and urine. Some patients may also have an elevation of ammonia, a toxic chemical, which can affect the nervous system.
Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and autistic features. Two common theories were proposed to account for these effects, the first is that they result from decreased concentrations of purine nucleotides needed for purine ...
158 11564 Ensembl ENSG00000239900 ENSMUSG00000022407 UniProt P30566 P54822 RefSeq (mRNA) NM_000026 NM_001123378 NM_001317923 NM_001363840 NM_009634 RefSeq (protein) NP_000017 NP_001116850 NP_001304852 NP_001350769 NP_033764 Location (UCSC) Chr 22: 40.35 – 40.39 Mb Chr 15: 80.83 – 80.86 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Adenylosuccinate lyase 'The homotetrameric ...
Argininosuccinate lyase is an intermediate enzyme in the urea synthesis pathway and its function is imperative to the continuation of the cycle. A non-functioning enzyme results in patients' accumulation of ammonia, argininosuccinate, and citrulline in the blood, and argininosuccinate is excreted in the urine. [ 9 ]
Hydroxymethylglutaryl lyase deficiency (HMG) < 1 in 100,000 Isovaleric acidemia (IVA) < 1 in 100,000 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 in 75,000
Cytochrome b 5 deficiency is a rare condition and form of isolated 17,20-lyase deficiency caused by deficiency in cytochrome b 5, ...
That is, in the beginning, 17,20-lyase deficiency will block synthesis of sex steroid hormones, forcing the pathways to produce more cortisol. However, the initial excess of cortisol is rapidly corrected by negative feedback mechanism—high cortisol decreases secretion of adrenocorticotropic hormone (ACTH) from zona fasciculata of adrenal gland.
Argininosuccinic acid is a precursor to fumarate in the citric acid cycle via argininosuccinate lyase. [5] See also. Succinic acid; References
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