Argininosuccinic acid is a non-proteinogenic amino acid that is an important intermediate in the urea cycle. Some cells synthesize argininosuccinic acid...
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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....
8 KB (930 words) - 14:36, 7 August 2024
Urea cycle (section N-Acetylglutamic acid)
Citrullinemia type I (Deficiency of argininosuccinic acid synthase) Argininosuccinic aciduria (Deficiency of argininosuccinic acid lyase) Argininemia (Deficiency...
21 KB (2,219 words) - 13:28, 25 July 2024
Sodium phenylbutyrate (redirect from Phenylbutyric acid)
carbamoyl phosphate synthetase I, ornithine transcarbamylase, or argininosuccinic acid synthetase. Uncontrolled, this causes intellectual impairment and...
18 KB (1,661 words) - 05:42, 10 April 2024
distinguished from the others: carbamoyl phosphate synthetase deficiency, argininosuccinic acid lyase deficiency, ornithine transcarbamylase deficiency, arginase...
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Citrullinemia (category Amino acid metabolism disorders)
entry on Argininosuccinate Synthetase Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic GeneReviews/NIH/UW...
7 KB (747 words) - 11:54, 27 December 2023
Argininosuccinate synthase (redirect from Argininosuccinic acid synthetase)
entry on Argininosuccinate Synthetase Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic Portal: Biology...
16 KB (1,737 words) - 04:49, 4 June 2024
spinal cord Antisperm antibodies, antibodies against sperm antigens Argininosuccinic aciduria, a disorder of the urea cycle ASA physical status classification...
5 KB (588 words) - 10:31, 24 October 2023
Canaline (category Alpha-Amino acids)
acid in a reaction mediated by argininosuccinic acid synthetase. l-Canavaninosuccinic acid is cleaved to form l-canavanine by argininosuccinic acid synthetase...
4 KB (355 words) - 23:55, 13 January 2024
Argininosuccinate lyase (redirect from Argininosuccinase acid lyase)
mechanism of the ASL reaction. Mutations in the human ASL gene causes argininosuccinic aciduria, a rare autosomal recessive disorder, and results in deficiencies...
13 KB (1,499 words) - 07:58, 10 June 2024
January 2011. Disorders of the distal urea cycle, such as citrullinemia, argininosuccinic aciduria and argininemia are included in newborn screening programs...
66 KB (8,039 words) - 10:47, 9 July 2024
Arginase deficiency Arginemia Argininosuccinate synthetase deficiency Argininosuccinic aciduria Argyria Arhinia Arhinia choanal atresia microphthalmia...
23 KB (1,929 words) - 13:58, 14 July 2024
750.700 – pyrrolidonecarboxylic acid MeSH D12.125.068.050 – arginine MeSH D12.125.068.050.075 – argininosuccinic acid MeSH D12.125.068.050.095 –...
18 KB (1,506 words) - 22:13, 11 October 2021
disorders. He also defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria. He...
7 KB (925 words) - 19:16, 3 February 2023
S/Th) > 1 in 50,000 Inborn errors of amino acid metabolism Tyrosinemia I (TYR I) < 1 in 100,000 Argininosuccinic aciduria (ASA) < 1 in 100,000 Citrullinemia...
7 KB (716 words) - 06:19, 9 June 2024
"Biosynthesis of Urea. VI. Enzymatic Cleavage of Argininosuccinic Acid to Arginine and Fumaric Acid" (Ratner, S., Anslow, W. P., Jr., and Petrack, B....
7 KB (767 words) - 15:34, 10 June 2023
biochemist who defined new amino-acid diseases such as various forms of Fanconi syndrome, Hartnup disease, argininosuccinic aciduria and homocystinuria César-Mansuète...
42 KB (4,542 words) - 08:26, 19 May 2024
Ángeles; Barbas, Coral (2020-10-06). "Unraveling the Cyclization of L-Argininosuccinic Acid in Biological Samples: A Study via Mass Spectrometry and NMR Spectroscopy"...
12 KB (1,153 words) - 11:10, 23 December 2023
699.250 – diaminopimelic acid MeSH D02.241.081.337.820 – succinic acids MeSH D02.241.081.337.820.150 – argininosuccinic acid MeSH D02.241.081.337.820...
192 KB (16,705 words) - 16:43, 9 February 2024
ARG1 Argininosuccinic aciduria; 207900; ASL Aromatase deficiency; 613546; CYP19A1 Aromatase excess syndrome; 139300; CYP19A1 Aromatic L-amino acid decarboxylase...
234 KB (18,877 words) - 15:43, 9 May 2024