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Phenylalanine hydroxylase deficiency
A disorder of phenylalanine metabolism caused by biallelic variants in the PAH gene, encompassing the full spectrum of phenylalanine hydroxylase deficiency from mild hyperphenylalaninemia, which requires no treatment, to phenylketonuria, in which untreated blood phenylalanine concentrations warrant phenylalanine-restricted dietary treatment.
- Identifiers
- MONDO:1060259 Orphanet:708881
- Causal genes
- PAH
- Also known as
- PAH deficiency
Subtypes
Disease Rare Not rare Subtypes
Projects
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