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?
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
Phenylalanine hydroxylase
Epimerase
Multiple carboxylase
Glucose 6 phosphatase
Disorders of Amino acid Metabolism