MAGNIFICENT MERCOLA: Branch Chain Amino Acid Deficiency Linked to Autism?
- 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 BCKDK deficiency, a high-protein diet and BCAA supplements led to significantly increased BCAA levels along with improvements or stabilizations in motor functions and head circumference in nearly all of the patients
- None of the children who started treatment before the age of 2 developed autism; the youngest child was 8 months old when treatment began, and they had normal development at age 3
- The researchers have called for adding BCKDK deficiency to newborn screening tests so BCAA supplementation could be started right away, potentially preventing autism development