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.
MONDO:0019242
inborn disorder of branched-chain amino acid metabolism
is_a
HVLI
exact
branched-chain aminotransferase deficiency
exact
hypervalinemia and hyperleucine-isoleucinemia
exact
hypervalinemia or hyperleucine-isoleucinemia
exact
SPBC428.02c