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 ...
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