Which one of the following is not a Pyridoxine Dependent disorder

Correct Answer: Methyl-malonic-acidemia
Description: 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
Category: Pediatrics
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