Arginine:glycine amidinotransferase deficiency
id:
arginine-glycine-amidinotransferase-deficiency-253-3149691
title:
Arginine:glycine amidinotransferase deficiency
text:
Arginine:glycine amidinotransferase deficiency or AGAT deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine amidinotransferase. This enzyme deficiency results in decreased creatine synthesis, and is caused by biallelic pathogenic variants in GATM. Individuals with AGAT deficiency are intellectually disabled and have muscle weakness. The symptoms of AGAT deficiency are caused by the lack of creatine in specific tissues, most notab
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase_deficiency
date created:
date modified:
2021-09-29T21:35:08Z
main entity:
{"identifier":"Q60745615","url":"https://www.wikidata.org/entity/Q60745615"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/c/c5/Creatine_neutral.png","width":876,"height":436}
fields total:
13
integrity:
15