ABMGG Clinical Biochemical Genetics Practice Questions - ABMGG Clinical Biochemical Genetics Certification Exam

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A 5-day-old infant presents with poor feeding, lethargy, and a distinctive sweet/burnt sugar odor. Plasma amino acid analysis shows markedly elevated leucine, isoleucine, and valine. What is the most likely diagnosis?

Phenylketonuria Maple syrup urine disease Isovaleric acidemia Propionic acidemia

Correct Answer:

Maple syrup urine disease

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