Guanidinoacetate methyltransferase deficiency
id:
guanidinoacetate-methyltransferase-deficiency-181-17201410
title:
Guanidinoacetate methyltransferase deficiency
text:
Guanidinoacetate methyltransferase deficiency is an autosomal recessive cerebral creatine deficiency that primarily affects the nervous system and muscles. It is the first described disorder of creatine metabolism, and results from deficient activity of guanidinoacetate methyltransferase, an enzyme involved in the synthesis of creatine. Clinically, affected individuals often present with hypotonia, seizures and developmental delay. Diagnosis can be suspected on clinical findings, and confirmed b
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/Guanidinoacetate_methyltransferase_deficiency
date created:
2007-08-15T02:03:41Z
date modified:
2024-09-06T15:21:35Z
main entity:
{"identifier":"Q5613758","url":"https://www.wikidata.org/entity/Q5613758"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/c/c5/Creatine_neutral.png","width":876,"height":436}
fields total:
13
integrity:
16