ORPHA:238583
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Synonyms: Hyperphenylalaninemia due to BH4 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A disorder of pterin metabolism characterized by tetrahydrobiopterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | Hyperphenylalaninemia due to BH4 deficiency |
| fr | Hyperphénylalaninémie par déficit en tétrahydrobioptérine | Hyperphénylalaninémie par déficit en BH4 |
| de | Hyperphenylalaninämie durch Tetrahydrobiopterin-Mangel | Hyperphenylalaninämie durch BH4-Mangel · Hyperphenylalaninämie, nicht-phenylketonurische |
| es | Hiperfenilalaninemia por deficiencia de tetrahidrobiopterina | Hiperfenilalaninemia no fenilcetonúrica · Hiperfenilalaninemia por deficiencia de BH4 |
| it | Iperfenilalaninemia da deficit di tetraidrobiopterina | Iperfenilalaninemia da deficit di BH4 · Iperfenilalaninemia da deficit di tetraidrobiopterina · Iperfenilalaninemia non fenilchetonurica |
| nl | Hyperfenylalaninemie door deficiëntie van tetrahydrobiopterine | Hyperfenylalaninemie door BH4-deficiëntie · Niet-fenylketonurische hyperfenylalaninemie |
| pt | Hiperfenilalaninemia por deficiência de tetrahidrobiopterina | |
| pl | Hiperfenyloalaninemia | Hiperfenylalaninemia nie związana z fenyloketonurią · Hiperfenyloalaninemia z powodu niedoboru BH4 · Hiperfenyloalaninemia z powodu niedoboru tetrahydrobiopteryny |
| cs | Hyperfenylalaninemie | Non-fenylketonurická hyperfenylalaninemie · Hyperfenylalaninémie způsobená BH4 deficitem · Hyperfenylalaninémie způsobená deficitem tetrahydrobiopterinu |
| uk | Гіперфенілаланінемія внаслідок дефіциту тетрагідробіоптерину | Гіперфенілаланінемія внаслідок дефіциту BH4 |
| zh | 四氢生物蝶呤缺乏性高苯丙氨酸血症 | 四氢生物蝶呤缺乏所致高苯丙氨酸血症 |
| tr | Tetrahidrobiopterin eksikliğine bağlı hiperfenilalaninemi | Fenilketonürik olmayan hiperfenilalaninemi · BH4 eksikliğine bağlı hiperfenilalaninemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 233910 | BTNT | validated | |
| OMIM | 261630 | BTNT | validated | |
| OMIM | 261640 | BTNT | validated | |
| OMIM | 264070 | BTNT | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C59.01 | NTBT | index | validated |
| MONDO | 0016543 | E | validated | |
| UMLS | C0751436 | E | validated | |
| GARD | 7751 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309819Disorder of pterin metabolism
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| GCH1 | ORPHA:2102GTP cyclohydrolase I deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:4193 | ENSG00000131979 | 600225 | 14q22.2 | GTP cyclohydrolase 1 | |
| PCBD1 | ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:8646 | ENSG00000166228 | 126090 | 10q22.1 | pterin-4 alpha-carbinolamine dehydratase 1 | 9760199[PMID] |
| PTS | ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:9689 | ENSG00000150787 | 612719 | 11q23.1 | 6-pyruvoyltetrahydropterin synthase | |
| QDPR | ORPHA:226Dihydropteridine reductase deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:9752 | ENSG00000151552 | 612676 | 4p15.32 | quinoid dihydropteridine reductase | 9744478[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 / 100 000 | Japan | Value and class | Validated | 6468444[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.21 / 100 000 | Brazil | Value and class | Validated | 35209917[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.
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HPO phenotypes
24 annotations · validated 2024-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004923 | Hyperphenylalaninemia | |
| Frequent (79-30%) | ||
| HP:0040210 | Abnormal circulating biopterin concentration | |
| HP:0040206 | Abnormal circulating neopterin concentration | |
| HP:0040416 | Abnormal urinary nitrogen compound level | |
| HP:0000708 | Atypical behavior | |
| HP:0003785 | Decreased CSF homovanillic acid concentration | |
| HP:0003781 | Excessive salivation | |
| HP:0001252 | Hypotonia | |
| HP:0012758 | Neurodevelopmental delay | |
| Occasional (29-5%) | ||
| HP:0002135 | Basal ganglia calcification | |
| HP:0100543 | Cognitive impairment | |
| HP:6000482 | Decreased circulating catecholamine concentration | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001332 | Dystonia | |
| HP:0033594 | Elevated urinary 7-biopterin level | |
| HP:0001276 | Hypertonia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0004904 | Maturity-onset diabetes of the young | |
| HP:0000252 | Microcephaly | |
| HP:0010553 | Oculogyric crisis | |
| HP:0001300 | Parkinsonism | |
| HP:0002421 | Poor head control | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32456656[PMID]_33903016[PMID]_21937252[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/238583
- This record as JSON: /data/d/238583.json