A 6-month-baby presented with recurrent seizures and developmental delay. On examination there was alopecia and scaly skin rashes. Investigations revealed metabolic acidosis, elevated lactates & ketonuria. What could be the underlying enzyme deficiency?: (A) Phenylalanine hydroxylase, (B) Epimerase, (C) Multiple carboxylase, (D) Glucose 6 phosphatase
Answer is C. Skin rashes with presence of ketones and metabolic acidosis are all features of Multiple carboxylase deficiency. Phenylalanine hydroxylase deficiency- microcephaly, hypopigmentation, musty body odour Glucose 6 phosphatase deficiency- doll like facies