hypervalinemia and hyperleucine-isoleucinemia

info · Genetic

An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13.

Signs and symptoms

Hyperisoleucinemia
Increased CSF protein concentration
Hoffmann sign
Headache
Hyperleucinemia
Hypervalinemia
Elevated circulating alanine aminotransferase concentration
Brisk reflexes

Also known as: branched-chain aminotransferase 2 deficiency