Adenosine monophosphate deaminase deficiency type 1
id:
adenosine-monophosphate-deaminase-deficiency-type-1-168-2974057
title:
Adenosine monophosphate deaminase deficiency type 1
text:
Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD). In virtually all cases, the deficiency has been caused by an SNP mutation, known as rs17602729 or C34T. While it was initially regarded as a recessive disorder, some res
brand slug:
wiki
category slug:
encyclopedia
description:
Metabolic disorder leading to muscle dysfunction
original url:
https://en.wikipedia.org/wiki/Adenosine_monophosphate_deaminase_deficiency_type_1
date created:
2002-12-19T17:30:14Z
date modified:
2024-08-30T23:47:17Z
main entity:
{"identifier":"Q1956662","url":"https://www.wikidata.org/entity/Q1956662"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/f/fb/AMP_structure.svg","width":863,"height":727}
fields total:
13
integrity:
16