phenylketonuria
Findings
No curated finding names phenylketonuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Definition from the Mondo Disease Ontology (MONDO:0009861), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated urinary gamma-glutamylphenylalanine levelHPOHP:6000281
- 12 of 12 reported patients · Congenital onset
- Increased level of hippuric acid in urineHPOHP:0410066
- 20 of 20 reported patients
- PhenylalaninuriaHPOHP:0032351
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HyperphenylalaninemiaHPOHP:0004923
- Frequent (30% to 79% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
Show the remaining 15
- Musty odorHPOHP:0410021
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
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 · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: phenylketonuria
- Also called
- hyperphenylalaninemia, non-PKU mildPAH deficiencyphenylalanine hydroxylase deficiencyPKU