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Branch Chain Amino Acid Deficiency Linked to Autism?
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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.

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Dr. Joseph Mercola
Mar 24, 2023
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Branch Chain Amino Acid Deficiency Linked to Autism?
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bcaa deficiency linked to autism

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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