2-Methylbutyryl-CoA dehydrogenase deficiency
id:
2-methylbutyryl-coa-dehydrogenase-deficiency-192-5698011
title:
2-Methylbutyryl-CoA dehydrogenase deficiency
text:
2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder. It causes the body to be unable to process the amino acid isoleucine properly. Initial case reports identified individuals with developmental delay and epilepsy, however most cases identified through newborn screening have been asymptomatic.
brand slug:
wiki
category slug:
encyclopedia
description:
Medical condition
original url:
https://en.wikipedia.org/wiki/2-Methylbutyryl-CoA_dehydrogenase_deficiency
date created:
date modified:
2024-04-15T06:28:26Z
main entity:
{"identifier":"Q4596905","url":"https://www.wikidata.org/entity/Q4596905"}
image:
fields total:
13
integrity:
14