A 2-week-old neonate with complete hypotonia, convulsions, failure to thrive and metabolic acidosis. The baby has small of burnt sugar in urine. The test called DNPH test is positive. What is the enzyme deficiency in this metabolic disorder?
Ans. C. Branched chain keto acid dehydrogenase-Identifying features are early age of presentation with failure to thrive, convulsion, hypotonia-Smell of burnt sugar or caramel odour-Positive DNPH test
Isovaleryl CoA dehydrogenase
Dihydrolipoamide dehydrogenase
Branched chain keto acid dehydrogenase
Transacylase
Carbohydrates