Beta-ketothiolase deficiency in an Indian patient living in Kuwait

ABSTRACT

Beta-ketothiolase [BKT] deficiency is a rare inborn error of isoleucine and ketone body metabolism. Its clinical manifestations range from an asymptomatic course to severe life-threatening ketoacidotic attacks with coma and cardiomyopathy. Early diagnosis and proper management may save lives of several patients, prevent neuro developmental complications and lead to favorable outcome. We report this case of a twenty-month-old Indian boy with BKT deficiency. This is to alert pediatricians to this rare metabolic disorder and to consider it in patients presenting with metabolic acidosis. To the best of our knowledge this is the first case to be reported from Kuwait and also from India