Hypervalinemia and hyperleucine-isoleucinemia

Definition:

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.

References:

[1]. Ina Knerr, et al. Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency. J Inherit Metab Dis. 2019 Sep;42(5):809-817. [Content Brief]

[2]. Justin E Sperringer, et al. Branched-Chain Amino Acids and Brain Metabolism. Neurochem Res. 2017 Jun;42(6):1697-1709. [Content Brief]

[3]. X L Wang, et al. Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene. J Inherit Metab Dis. 2015 Sep;38(5):855-61. [Content Brief]

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