DISEASE: Hypervalinemia and hyperleucine-isoleucinemia
Entry
H02546 Disease
Name
Hypervalinemia and hyperleucine-isoleucinemia
Description
Hypervalinemia and hyperleucine-isoleucinemia is a very rare disease caused by mutations in BCAT2 that catalyze the first step in branched-chain amino acid (BCAA) catabolism. BCAT2 deficiency results in a distinctive biochemical profile with raised plasma BCAA levels, and may be associated with developmental delay and autism spectrum disorder in some cases. However, its phenotype appears to be extremely variable.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H02546 Hypervalinemia and hyperleucine-isoleucinemia
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Perez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodriguez-Pombo P, Olpin SE, Banka S
Title
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
