PAH / PTS / QDPR AR unreviewed
Phenylketonuria
Phenylalanine catabolism
Phenylalanine hydroxylase (or BH4 synthesis/recycling)
Enzyme or protein defect
Phenylalanine hydroxylase (or BH4 synthesis/recycling)
Accumulates or becomes deficient
Phenylalanine; phenylketones
Key features
Intellectual disability, musty odour, hypopigmentation, eczema, seizures
Management
Phe-restricted diet, Tyr supplement, sapropterin; avoid aspartame
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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