Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive metabolic disorder caused by mutations of the APRT gene. Adenine phosphoribosyltransferase...
24 KB (2,087 words) - 07:42, 21 October 2024
Adenine phosphoribosyltransferase (APRTase) is an enzyme encoded by the APRT gene, found in humans on chromosome 16. It is part of the Type I PRTase family...
21 KB (2,410 words) - 19:32, 2 September 2023
Lesch–Nyhan syndrome (redirect from Complete hypoxanthine-guanine phosphoribosyltransferase deficiency)
inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in...
38 KB (4,775 words) - 16:51, 5 September 2024
Nicotinamide adenine dinucleotide (NAD) is a coenzyme central to metabolism. Found in all living cells, NAD is called a dinucleotide because it consists...
79 KB (9,020 words) - 21:04, 28 October 2024
produce stones composed of xanthine. People affected by adenine phosphoribosyltransferase deficiency may produce 2,8-dihydroxyadenine stones, alkaptonurics...
132 KB (13,797 words) - 23:46, 18 October 2024
syndrome recessive form Adducted thumbs Dundar type Adenine phosphoribosyltransferase deficiency Adenocarcinoid tumor Adenocarcinoma of esophagus Adenocarcinoma...
24 KB (1,972 words) - 21:28, 16 August 2024
are two types of phosphoribosyltransferases: adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT). HGPRT...
7 KB (736 words) - 10:22, 12 August 2024
Purine metabolism (redirect from Adenine pathway)
nucleotides. The enzyme adenine phosphoribosyltransferase (APRT) salvages adenine. The enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) salvages...
14 KB (1,640 words) - 17:31, 21 November 2024
APRT may refer to: Adenine phosphoribosyltransferase, an enzyme Adenine phosphoribosyltransferase deficiency, a genetic and metabolic disorder This disambiguation...
174 bytes (47 words) - 17:20, 27 December 2019
and a form of vitamin B3. It functions as a precursor to nicotinamide adenine dinucleotide, or NAD+, through a two-step and a three-step pathway. While...
21 KB (1,932 words) - 05:33, 14 October 2024
inserted. Lesch–Nyhan syndrome is caused by a deficiency in hypoxanthine-guanine phosphoribosyltransferase or HGPRT, the enzyme that catalyzes the reversible...
13 KB (1,457 words) - 22:06, 24 December 2023
is excreted in the urine because of a deficiency in the adenine salvage enzyme adenine phosphoribosyltransferase. The defect is inherited as an autosomal...
4 KB (282 words) - 09:21, 24 January 2024
amidotransferase; adenine phosphoribosyltransferase. It is also used to treat kidney stones caused by deficient activity of adenine phosphoribosyltransferase. Allopurinol...
31 KB (2,798 words) - 23:42, 18 October 2024
Syndrome. The build up is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which leads to decreased nucleotide...
15 KB (1,499 words) - 18:07, 29 August 2024
the nucleic acid RNA. The others are adenine (A), cytosine (C), and guanine (G). In RNA, uracil binds to adenine via two hydrogen bonds. In DNA, the uracil...
29 KB (2,943 words) - 16:12, 20 November 2024
self- mutilation, mental deficiency, and gout. It is caused by the absence of hypoxanthine-guanine phosphoribosyltransferase, which is a necessary enzyme...
61 KB (6,770 words) - 15:11, 20 August 2024