Branched chain ketoacid decarboxylation is defective in:: (A) Maple syrup urine disease, (B) Hartnup disease, (C) Alkaptonuria, (D) GMI gangliosidosis
Answer is A. 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.