ORPHA:13
6-pyruvoyl-tetrahydropterin synthase deficiency
Synonyms: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal 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 | 6-pyruvoyl-tetrahydropterin synthase deficiency | Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency |
| fr | Déficit en 6-pyruvoyl-tétrahydroptérine synthase | Hyperphénylalaninémie par déficit en 6-pyruvoyl-tétrahydroptérine synthase |
| de | 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel | Hyperphenylalalinanämie durch 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel · Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, A · PTS-Mangel |
| es | Deficiencia de 6-piruvil-tetrahidropterina sintasa | |
| it | Deficit di 6-piruvoil-tetraidropterina-sintasi | Iperfenilalaninemia da deficit di 6-piruvoil-tetraidropterina-sintasi |
| nl | Deficiëntie van 6-pyruvoyl-tetrahydropterinesynthase | Hyperfenylalaninemie door deficiëntie van 6-pyruvoyl-tetrahydropterinesynthase |
| pt | Deficiência de 6-piruvoil-tetrahidropterina sintase | Hiperfenilalaninemia por deficiência de 6-piruvoil-tetrahidropterina sintase |
| pl | Niedobór syntzay 6-pirogronylo-tetrahydropteryny | = en |
| cs | Deficit 6-pyruvoyl-tetrahydropterin syntázy | Hyperfenylalaninémie způsobená deficitem 6-pyruvoyltetrahydropterin syntázy |
| uk | Дефіцит 6-пірувоїл-тетрагідроптеринсинтази | Гіперфенілаланінемія внаслідок дефіциту 6-пірувоилтетрагідроптеринсинтази |
| zh | 6-丙酮酰-四氢蝶呤合成酶缺乏症 | 6-丙酮酰四氢蝶呤合成酶缺乏致高苯丙氨酸血症 |
| tr | 6-piruvoil-tetrahidropterin sentaz eksikliği | 6-piruvoiltetrahidropterin sentaz eksikliğine bağlı hiperfenilalaninemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261640 | E | validated | |
| ICD-10 | E70.1 | NTBT | attributed | validated |
| ICD-11 | 5C59.01 | NTBT | index | validated |
| MONDO | 0009863 | E | validated | |
| MeSH | C535325 | E | validated | |
| UMLS | C0878676 | E | validated | |
| GARD | 5682 | 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:238583Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTS | Disease-causing germline mutation(s) in | Assessed | HGNC:9689 | ENSG00000150787 | 612719 | 11q23.1 | 6-pyruvoyltetrahydropterin synthase |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 30853107[PMID]_32456656[PMID]_ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | — | Europe | Class only | Validated | 30853107[PMID]_32456656[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.0854 / 100 000 | Brazil | Value and class | Validated | 28801146[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3094 / 100 000 | China | Value and class | Validated | 33980295[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.5258 / 100 000 | Hong Kong | Value and class | Validated | 24803483[PMID]_24992243[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
31 annotations · validated 2017-04-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001252 | Hypotonia | |
| HP:0002179 | Opisthotonus | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000713 | Agitation | |
| HP:0001251 | Ataxia | |
| HP:0002067 | Bradykinesia | |
| HP:0002072 | Chorea | |
| HP:0001266 | Choreoathetosis | |
| HP:0002169 | Clonus | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000716 | Depression | |
| HP:0002329 | Drowsiness | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0003781 | Excessive salivation | |
| HP:0002527 | Falls | |
| HP:0001263 | Global developmental delay | |
| HP:0002487 | Hyperkinetic movements | |
| HP:0001347 | Hyperreflexia | |
| HP:0001276 | Hypertonia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0001336 | Myoclonus | |
| HP:0010553 | Oculogyric crisis | |
| HP:0000980 | Pallor | |
| HP:0002421 | Poor head control | |
| HP:0000508 | Ptosis | |
| HP:0000711 | Restlessness | |
| HP:0002063 | Rigidity | |
| HP:0001250 | Seizure | |
Annotation source: 11388593[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/13
- This record as JSON: /data/d/13.json