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

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A 2-year-old child presents with developmental regression, seizures, and eczema. Urine organic acids show elevated phenylpyruvic acid and phenylacetic acid. Which dietary intervention is the mainstay of treatment?

Restriction of leucine intake Restriction of phenylalanine intake with medical formula High-protein diet supplementation Supplementation with medium-chain triglycerides

Correct Answer:

Restriction of phenylalanine intake with medical formula

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