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Up to: Inborn disorder of branched-chain amino acid metabolism
Hypervalinemia and hyperleucine-isoleucinemia
Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.
This condition has no sub-types.