ORPHA:3402
Transient tyrosinemia of the newborn
Synonyms: Transient tyrosinemia of the neonate
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transient tyrosinemia of the newborn | Transient tyrosinemia of the neonate |
| fr | Tyrosinémie transitoire du nouveau-né | |
| de | Transiente Tyrosinämie des Neugeborenen | Tyrosinämie, neonatale transiente |
| es | Tirosinemia transitoria del recién nacido | Tirosinemia transitoria del neonato |
| it | Tirosinemia transitoria del neonato | |
| nl | Voorbijgaande tyrosinemie bij de pasgeborene | Voorbijgaande tyrosinemie bij de neonaat |
| pt | Tirosinemia transitória do recém-nascido | Deficiência transitória de tirosina oxidase |
| pl | Przejściowa tyrozynemia noworodków | Przejściowa tyrozynemia noworodków |
| cs | Tranzientní tyrosinémie novorozenců | = en |
| uk | Транзиторна тирозинемія новонароджених | Транзиторна тирозинемія новонароджених |
| zh | 新生儿一过性酪氨酸血症 | 新生儿一过性酪氨酸血症 |
| tr | Yenidoğanın geçici tirozinemi | Yenidoğan geçici tirozinemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P74.5 | E | specific | validated |
| ICD-11 | 5C50.1Y | NTBT | index | validated |
| MONDO | 0018083 | E | validated | |
| UMLS | C0268485 | E | validated | |
| GARD | 5388 | 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:284818Disorder of tyrosine metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3402
- This record as JSON: /data/d/3402.json