classic phenylketonuria
MONDO:0019259Mondo
Findings
No curated finding names classic phenylketonuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.
Definition from the Mondo Disease Ontology (MONDO:0019259), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PAHHGNC:8582
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: classic phenylketonuria
- Also called
- classic PKU