Phenylketonuria Diagnosed On Newborn in Pediatrics — 6yo Child | Pediatric Endocrinology | SMLE Q#17814

SMLE Question #17814

Pediatrics Pediatric Endocrinology

Objective: OBJ-NEO-PKU-01

Last updated: February 2026
A 6-year-old boy with phenylketonuria diagnosed on newborn screening attends routine metabolic follow-up. He is asymptomatic and meeting milestones on prescribed medical formula and diet. His parents ask what long-term plan best prevents neurocognitive and other complications as he grows older. What is the most appropriate long-term management strategy?

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