Branched chain ketoacid decarboxylation is defective in:
Ans. A. Maple Syrup urine disease(Ref: Harper 30/e page 276-278)Maple Syrup Urine DiseaseBiochemical DefectDeficiency of the enzyme Branched Chain Ketoacid Dehydrogenase.Defective reaction is Defective Decarboxylation.Clinical FeaturesMental RetardationConvulsionAcidosis, ComaSmell of Burnt Sugar Tests for MSUDDiNitro Phenyl Hydrazine Test (DNPH Test)Rotheras TestEnzyme AnalysisTreatmentRestrict Branched Chain Amino AcidGive high doses Thiamine.
Maple syrup urine disease
Hartnup disease
Alkaptonuria
GMI gangliosidosis
Proteins and Amino Acids