Autism Spectrum Disorder — Topic Test
17 questions · exam mode (answers revealed at the end). 18 min suggested.
A 5-day-old term neonate, exclusively breastfed, is brought with poor feeding and a high-pitched cry. Capillary blood glucose is normal, but the baby has recurrent focal seizures unresponsive to a loading dose of phenobarbitone. A trial of intravenous pyridoxine promptly aborts the seizures. Which enzyme defect underlies this disorder?
AGlutamate decarboxylase
BCystathionine beta-synthase
CBranched-chain alpha-ketoacid dehydrogenase
DAntiquitin (alpha-aminoadipic semialdehyde dehydrogenase)