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Inherited Metabolic And Single-Gene Disorders Practice Test
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A term newborn girl has an abnormal state newborn screen with phenylalanine 18 mg/dL (normal <2) and an elevated phenylalanine-to-tyrosine ratio. She is feeding well and appears normal on exam. Pregnancy is uncomplicated, and the mother denies alcohol or drug use. Family history is notable for a cousin with intellectual disability of unclear cause. Confirmatory plasma amino acids show markedly elevated phenylalanine with low tyrosine. Urine organic acids show increased phenylpyruvate. Genetic testing identifies biallelic pathogenic variants in the PAH gene. The parents ask what should be done now to prevent neurologic injury. What is the most appropriate next step in management?
A term newborn girl has an abnormal state newborn screen with phenylalanine 18 mg/dL (normal <2) and an elevated phenylalanine-to-tyrosine ratio. She is feeding well and appears normal on exam. Pregnancy is uncomplicated, and the mother denies alcohol or drug use. Family history is notable for a cousin with intellectual disability of unclear cause. Confirmatory plasma amino acids show markedly elevated phenylalanine with low tyrosine. Urine organic acids show increased phenylpyruvate. Genetic testing identifies biallelic pathogenic variants in the PAH gene. The parents ask what should be done now to prevent neurologic injury. What is the most appropriate next step in management?