AB014. Beta-ketothiolase deficiency: phenotype genotype and outcome of 48 Vietnamese patients

摘要

BackgroundBeta-ketothiolase deficiency (BKT) is an inherited metabolic disease of isoleucine and ketone body caused by mutations in the T2 gene. It is a rare disease with over 100 patients reported worldwide. We aimed to describe phenotypes and genotypes and to evaluate outcomes of Vietnamese patients with BKT.