Branched-chain keto acid dehydrogenase kinase deficiency
id:
branched-chain-keto-acid-dehydrogenase-kinase-deficiency-193-15591740
title:
Branched-chain keto acid dehydrogenase kinase deficiency
text:
Branched-chain keto acid dehydrogenase kinase deficiency is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids. This results in delayed brain development, which may present as intellectual disability and autism spectrum disorder. Patients may suffer from epileptic seizure.
brand slug:
wiki
category slug:
encyclopedia
description:
Autosomal recessive metabolic disorder
original url:
https://en.wikipedia.org/wiki/Branched-chain_keto_acid_dehydrogenase_kinase_deficiency
date created:
date modified:
2024-04-15T06:36:20Z
main entity:
{"identifier":"Q30990099","url":"https://www.wikidata.org/entity/Q30990099"}
image:
{"content_url":"https://upload.wikimedia.org/wikipedia/commons/4/4d/L-Leucine.svg","width":255,"height":158}
fields total:
13
integrity:
15