Branched-chain keto acid dehydrogenase kinase deficiency

Branched-chain keto acid dehydrogenase kinase deficiency, abbreviated BCKDK deficiency, is a disease that results from mutations of the BCKDK gene. People with it have low levels of the branched-chain amino acids in the body because these essential amino acids are broken down too quickly. The result is delayed brain development, which can appear as intellectual disability and autism spectrum disorder, and some patients have epileptic seizures. Other reported features include developmental delay, impaired gross motor function, language impairment, clumsiness and microcephaly that is not present at birth. The source reports that the condition was first described in 2012 in three unrelated families, and that supplementing the amino acids together with a high protein diet improved symptoms in treated patients. This entry records what the source states and is not medical advice.