| 概要 |
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.
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| 著者 |
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 |
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