case study Sophia Garcia is a 3-year-old female brought to the clinic by her parents for a developmental evaluation. Her parents report concerns about delayed speech, frequent irritability, and difficulty focusing. Sophia was born at full term and appeared healthy at birth. However, her newborn screening test flagged an elevated phenylalanine level, and she was diagnosed with phenylketonuria (PKU). Although her parents attempted to adhere to a low-phenylalanine diet, they admit occasional lapses in her dietary management. Sophia has fair skin and light-colored hair, with a history of eczema. A neurodevelopmental assessment reveals mild intellectual delay.
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