Molecular characterization of beta-ketothiolase deficiency in 10 Indians: Discovery of 4 novel mutations in ACAT1 gene
Beta-ketothiolase (T2) deficiency is an autosomal recessive metabolic disease caused by mutations in _ACAT1 _gene. This disease affects isoleucine catabolism and ketone body utilization and characterized clinically by intermittent ketoacidotic episodes. We report 9 Indians with beta-ketothiolase deficiency. They were suspected based on their clinical presentations (ketoacidotic episodes) and increased urinary isoleucine catabolic metabolites. Genomic DNA analysis revealed 6 different ... Read more