Isovaleric academia is caused by deficiency of -
Ans. is 'c' i.e., Isovaleryl CoA dehydrogenase* Isovaleric acidemia is an inborn error of metabolism caused by a defect of Isovaleryl CoA dehydrogenase* Isovaleryl CoA dehydrogenase is an enzyme involved in the metabolism of a branched chain aminoacid, leucine.* It is characterized by failure to thrive, feeding difficulties, seizures, vomiting that progresses to coma. It is characterized by sweaty feet odour.* Diagnosis is done by estimation of isovalerylglycine and isovaleryl carnitine. This is done by Tandem Mass Spectrometry* Treatment is by protein restriction, glycine and carnitine supplementation (Isovaleryl CoA is conjugated with glycine and carnitine to form Isovaleryl glycine and Isovaleryl Carnitine and get excreted), Biotin Supplementation.
Branched chain ketoacid dehydrogenase
Isovaleryl CoA decarboxylase
Isovaleryl CoA dehydrogenase
Isovaleryl CoA synthase
Proteins and Amino Acids