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Mild phenylketonuria is a rare form of phenylketouria (PKU, see this term), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity.
ORPHA:79253Classification level: Subtype of disorder
- Mild PKU
- Variant PKU
- Variant phenylketonuria
- Prevalence: Unknown
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E70.1
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 10324
- MedDRA: -
Prevalence of this form is unknown.
Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU. Clinical signs include reduced cognitive function and behavioral and developmental disorders. Dietary phenylalanine tolerance is 400-600 mg/day.
The disorder is caused by certain mutations in the PAH gene (12q22-q24.2) which result in slightly higher residual enzyme activity and less need to comply strictly to a low phenylalanine diet in comparison to classic phenylketonuria (see this term). Transmission is autosomal recessive.