Hypervalinemia and hyperleucine-isoleucinemia
MONDO:0100058Elevated 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.
Also known as: HVLI, branched-chain aminotransferase deficiency, hypervalinemia and hyperleucine-isoleucinemia, hypervalinemia or hyperleucine-isoleucinemia
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