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Hypervalinemia and hyperleucine-isoleucinemia

rare

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.

Identifiers
MONDO:0100058 OMIM:618850
Causal genes
BCAT2
Part of
Inborn disorder of branched-chain amino acid metabolism
Also known as
branched-chain aminotransferase deficiency · HVLI · hypervalinemia or hyperleucine-isoleucinemia

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