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GENATLAS PHENOTYPE

last update : 15-02-2018

Symbol	BCKDKD
Location	16p11.2
Name	branched-chain ketoacid dehydrogenase kinase deficiency
Corresponding gene	BCKDK
Other symbol(s)	AIDE
Main clinical features	autism, epilepsy, intellectual disability, and reduced branched-chain amino acids (BCAAs) autism, intellectual disability (ID), and either seizure or abnormal electroencephalogram (EEG)
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Remark(s)

plasma BCAAs ( branched-chain amino acids) in patient with a homozygous mutation showed notably lower levels of plasma BCAAs than their healthy relatives, and the neurological phenotype may be treated by dietary supplementation with BCAAs (PMID: 22956686)) patients with BCKDK mutations may lack basal, negative regulation of BCKDHA activity (PMID: 22956686)))