Phenylketonuria
Topic: Pediatrics
An inherited metabolic disorder in which phenylalanine hydroxylase deficiency lets phenylalanine build up and damage the brain. Untreated, it causes severe intellectual disability, seizures and a musty odor of urine and sweat. Newborn screening detects it, and treatment is a lifelong phenylalanine-restricted diet with special formula. Products containing aspartame are avoided because aspartame contains phenylalanine.
- Also known as:
- PKU
- In Turkish:
- Fenilketonüri
What does Phenylketonuria mean?
Phenylketonuria is part of the Pediatrics topic in nursing. Students meet it in class, on clinical placements and while preparing for exams.
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