ORPHA:716
Phenylketonuria
Synonyms: PKU
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phenylketonuria | PKU |
| fr | Phénylcétonurie | PCU · PKU |
| de | Phenylketonurie | = en |
| es | Fenilcetonuria | = en |
| it | Fenilchetonuria | = en |
| nl | Fenylketonurie | = en |
| pt | Fenilcetonúria | = en |
| pl | Fenyloketonuria | Niedobór hydroksylazy fenyloalaninowej · Niedobór PAH · PKU |
| cs | Fenylketonurie | Deficit PAH · PKU · Deficit fenylalaninhydroxylázy |
| uk | Фенілкетонурія | Дефіцит PAH · Дефіцит фенілаланінгідроксилази · ФКУ |
| zh | 苯丙酮尿症 | 苯丙氨酸羟化酶缺乏症 |
| tr | Fenilketonüri | PKU · PAH eksikliği · Fenilalanin hidroksilaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261600 | NTBT | validated | |
| ICD-10 | E70.0 | NTBT | attributed | validated |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.0 | E | specific | validated |
| MONDO | 0009861 | E | validated | |
| MeSH | D010661 | E | validated | |
| UMLS | C0031485 | E | validated | |
| GARD | 7383 | E | validated | |
| MedDRA | 10034872 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:708881Phenylalanine hydroxylase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:79253Mild phenylketonuria moved to · inactive
- ORPHA:79254Classic phenylketonuria moved to · inactive
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PAH | ORPHA:293284Tetrahydrobiopterin-responsive phenylketonuria | Disease-causing germline mutation(s) in | Assessed | HGNC:8582 | ENSG00000171759 | 612349 | 12q23.2 | phenylalanine hydroxylase | 12409276[PMID] |
| PAH | ORPHA:708895Tetrahydrobiopterin-unresponsive phenylketonuria | Disease-causing germline mutation(s) in | Assessed | HGNC:8582 | ENSG00000171759 | 612349 | 12q23.2 | phenylalanine hydroxylase | 29025426[PMID] |
5
Prevalence and incidence
103 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | France | Value and class | Validated | 11641035[PMID]_17616847[PMID]_[EXPERT]_Haute Autorité de Santé 2010[OTHER] |
| Point prevalence | 1-5 / 10 000 | 10.99 / 100 000 | France | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.4 / 100 000 | Europe | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 11.5079 / 100 000 | Europe | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.4 / 100 000 | United Kingdom | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | United Kingdom | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 22 / 100 000 | Ireland | Value and class | Validated | 9254847[PMID]_[EXPERT] |
| Point prevalence | 1-5 / 10 000 | 22 / 100 000 | Ireland | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | — | Finland | Class only | Validated | 8825928[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.8928 / 100 000 | Finland | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.577 / 100 000 | United States | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | United States | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | Latin America | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 3.5999 / 100 000 | Latin America | Value and class | Validated | 32668217[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 5.5 / 100 000 | Brazil | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Brazil | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.266 / 100 000 | Australia | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 8.89 / 100 000 | Australia | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.9 / 100 000 | Iceland | Value and class | Validated | 21659675[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.9 / 100 000 | Iceland | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.16 / 100 000 | Japan | Value and class | Not yet validated | 6468444[PMID]_20971365[PMID]_ ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.8 / 100 000 | Japan | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.412 / 100 000 | China | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 6.2798 / 100 000 | China | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.68 / 100 000 | Thailand | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.4399 / 100 000 | Thailand | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.95 / 100 000 | Turkey | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-5 / 10 000 | 14.99 / 100 000 | Turkey | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.6 / 100 000 | United Arab Emirates | Value and class | Validated | 34082800[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.89 / 100 000 | United Arab Emirates | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Jordan | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.6 / 100 000 | Jordan | Value and class | Validated | 10.1007/978-3-642-05080-0_11[DOI] |
| Point prevalence | 1-9 / 100 000 | 5.4644 / 100 000 | India | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.439 / 100 000 | Korea, Republic of | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.862 / 100 000 | Philippines | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.2 / 100 000 | Singapore | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.6999 / 100 000 | Taiwan, Province of China | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.5 / 100 000 | Bahrain | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.9998 / 100 000 | Iraq | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 16.9 / 100 000 | Slovakia | Value and class | Validated | 34082800[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.6 / 100 000 | Spain | Value and class | Validated | 34082800[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.55 / 100 000 | Chile | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 7.271 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 5.5 / 100 000 | Canada | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 5.1 / 100 000 | Korea, Republic of | Value and class | Validated | 34082800[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.433 / 100 000 | Taiwan, Province of China | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 6.4 / 100 000 | Worldwide | Value and class | Validated | 34082800[PMID] |
| Point prevalence | 1-5 / 10 000 | 15.603 / 100 000 | Israel | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Egypt | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.0005 / 100 000 | Tunisia | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 17.349 / 100 000 | Austria | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.0005 / 100 000 | Belarus | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Bosnia and Herzegovina | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.746 / 100 000 | Bulgaria | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.0004 / 100 000 | Croatia | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.6923 / 100 000 | Cyprus | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 19.1534 / 100 000 | Czech Republic | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.4437 / 100 000 | Denmark | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.9997 / 100 000 | Estonia | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 18.6567 / 100 000 | Germany | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.5969 / 100 000 | Greece | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 11.1111 / 100 000 | Hungary | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Italy | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.2399 / 100 000 | Latvia | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 10.7526 / 100 000 | Lithuania | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 13.5998 / 100 000 | Moldova, Republic of | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.661 / 100 000 | Netherlands | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.7282 / 100 000 | Norway | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.3051 / 100 000 | Poland | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 8 / 100 000 | Portugal | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Romania | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.9634 / 100 000 | Russian Federation | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 8.13 / 100 000 | Serbia | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 17.3822 / 100 000 | Slovakia | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.9 / 100 000 | Slovenia | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 9.8366 / 100 000 | Spain | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.8858 / 100 000 | Sweden | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 12.5 / 100 000 | Switzerland | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-5 / 10 000 | 14.0016 / 100 000 | Ukraine | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.6666 / 100 000 | Canada | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.2798 / 100 000 | New Caledonia | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.2798 / 100 000 | New Zealand | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 6.3633 / 100 000 | Argentina | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.1999 / 100 000 | Chile | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.0333 / 100 000 | Costa rica | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.5999 / 100 000 | Mexico | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.129 / 100 000 | Peru | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 2 / 100 000 | Cuba | Value and class | Validated | 32668217[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.1366 / 100 000 | Worldwide | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.8 / 100 000 | Saudi Arabia | Value and class | Validated | 34082800[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8.75 / 100 000 | Austria | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 16.6 / 100 000 | Estonia | Value and class | Validated | 34082800[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.316 / 100 000 | Germany | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 4.25 / 100 000 | Greece | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 8.5 / 100 000 | Hungary | Value and class | Validated | 34082800[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.933 / 100 000 | Italy | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 24.6 / 100 000 | North Macedonia | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 7.85 / 100 000 | Poland | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | Portugal | Value and class | Validated | 34082800[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 7.02 / 100 000 | Saudi Arabia | Value and class | Validated | 32668217[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 13.34 / 100 000 | India | Value and class | Validated | 32668217[PMID]_ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 22.7 / 100 000 | Pakistan | Value and class | Validated | 32668217[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
25 annotations · validated 2023-08-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0032351 | Phenylalaninuria | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000708 | Atypical behavior | |
| HP:0002353 | EEG abnormality | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0004923 | Hyperphenylalaninemia | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000252 | Microcephaly | |
| HP:0410021 | Musty odor | |
| HP:0000938 | Osteopenia | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0001298 | Encephalopathy | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000736 | Short attention span | |
| HP:0001337 | Tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301677[PMID]_34017006[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/716
- This record as JSON: /data/d/716.json