Branch Chain Amino Acid Deficiency Linked to Autism?

Mutations in the branched chain ketoacid dehydrogenase kinase (BCKDK) gene can lead to a deficiency of branched-chain amino acids (BCAAs) that appears to be involved in some autism cases.

STORY AT-A-GLANCE

• Some cases of autism are caused by mutations in the branched chain ketoacid dehydrogenase kinase (BCKDK) gene; in those with BCKDK deficiency, BCAAs are broken down too quickly, leading to depletion

• BCAA deficiency is linked to a neurodevelopmental disorder that includes autism, intellectual disability and microcephaly

• In children with BC…