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…
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