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?
Correct Answer: Multiple carboxylase
Description: 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
Category:
Pediatrics
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