Hypervalinemia and hyperleucine-isoleucinemia
Hypervalinemia and hyperleucine-isoleucinemia
Definition
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.
Also known as branched-chain aminotransferase deficiency, HVLI, hypervalinemia and hyperleucine-isoleucinemia, hypervalinemia or hyperleucine-isoleucinemia — per MONDO