Tetrahydrobiopterin-responsive phenylketonuria
Synonyms: BH4-responsive PKU · BH4-responsive phenylketonuria · Tetrahydrobiopterin-responsive PKU
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4), an essential cofactor of phenylalanine hydroxylase.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetrahydrobiopterin-responsive phenylketonuria | BH4-responsive PKU · BH4-responsive phenylketonuria · Tetrahydrobiopterin-responsive PKU |
| fr | Phénylcétonurie sensible à la tétrahydrobioptérine | PCU BH4 sensible · PKU BH4 sensible · Phénylcétonurie BH4 sensible · Phénylcétonurie sensible au BH4 |
| de | Tetrahydrobiopterin-responsive Phenylketonurie | BH4-responsive PKU · BH4-responsive Phenylketonurie · Tetrahydrobiopterin-responsive PKU |
| es | Fenilcetonuria sensible a la tetrahidrobiopterina | Fenilcetonuria sensible a BH4 · PKU sensible a BH4 · PKU sensible a la tetrahidrobiopterina |
| it | Fenilchetonuria sensibile alla tetraidrobiopterina | BH4 sensibile a PKU · Fenilchetonuria sensibile a BH4 · PKU sensibile alla tetraidrobiopterina |
| nl | Tetrahydrobiopterineresponsieve fenylketonurie | BH4-responsieve PKU · BH4-responsieve fenylketonurie · Tetrahydrobiopterineresponsieve PKU |
| pt | Hiperfenilalaninemia/fenilcetonúria sensível à tetrahidrobiopterina | HPA/PKU sensível à BH4 · HPA/PKU sensível à tetrahidrobiopterina · Hiperfenilalaninemia/fenilcetonúria sensível à BH4 |
| pl | Fenyloketonuria wrażliwa na tetrahydrobiopterynę | Hiperfenyloalaninemia/fenyloketonuria wrażliwa na BH4 · HPA/PKU wrażliwa na BH4 · HPA/PKU wrażliwa na tetrahydrobiopterynę |
| cs | Hyperfenylalaninemie/fenylketonurie reagující na tetrahydrobiopterin | HPA/PKU reagující na BH4 · Hyperfenylalaninemie/fenylketonurie reagující na BH4 · HPA/PKU reagující na tetrahydrobiopterin |
| uk | Тетрагідробіоптерин-чутлива гіперфенілаланінемія/фенілкетонурія | BH4-чутлива ГФА/ФКУ · BH4-реактивна гіперфенілаланінемія/фенілкетонурія · Тетрагідробіоптерин-чутливий HPA/PKU |
| zh | 四氢生物蝶呤敏感性高苯丙氨酸血症/苯丙酮尿症 | 四氢生物蝶呤反应性高苯丙氨酸血症/苯丙酮尿症 |
| tr | Tetrahidrobiopterine duyarlı hiperfenilalaninemi / fenilketonüri | BH4'e-duyarlı HPA / PKU · Tetrahidrobiyopterine duyarlı HPA / PKU · BH4'e duyarlı hiperfenilalaninemi / fenilketonüri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261600 | NTBT | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| MONDO | 0017389 | E | validated | |
| UMLS | C5679945 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:716Phenylketonuria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAH | Disease-causing germline mutation(s) in | Assessed | HGNC:8582 | ENSG00000171759 | 612349 | 12q23.2 | phenylalanine hydroxylase | 12409276[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293284
- This record as JSON: /data/d/293284.json