Full 2L QBank
Pediatrics Metabolic disorders 9d8f5636

Which one of the following is not a Pyridoxine Dependent disorder

A
Homocystinuria
B
Methyl-malonic-acidemia
C
Cystathioninuria
D
Xanthurenic aciduria
High-Yield Explanation
Methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. Patients typically present at the age of 1 month to 1 year with neurologic manifestations, such as seizure, encephalopathy, and stroke. Reference: GHAI Essential pediatrics, 8th edition

Related Pediatrics MCQs

Practice 2,00,000+ NEET PG Questions Free

Timed mock tests, mistake queue analytics, audio lectures & zero attempt limits on i❤️Exams.

Start Free Mock Test Now