Galactose-1-phosphate uridylyltransferase deficiency
Synonyms: GALT deficiency · GALT deficiency galactosemia · Galactose-1-phosphate uridylyltransferase deficiency galactosemia · Galactosemia type 1 · Galactosemia type I · Type 1 galactosemia · Type I galactosemia
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of galactosemias characterized by GALT deficiency and presenting with variable clinical features depending on the residual GALT activity present in affected individuals, going from classic galactosemia manifesting with life-threatening complications triggered by breastfeeding or the ingestion of lactose/galactose-containing formula in untreated infants and long term-complications despite diet (GALT activity <1%), to a less severe phenotype (GALT activity 1-10%) or completely asymptomatic patients (GALT activity 25-30%).
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Galactose-1-phosphate uridylyltransferase deficiency | GALT deficiency · GALT deficiency galactosemia · Galactose-1-phosphate uridylyltransferase deficiency galactosemia · Galactosemia type 1 · Galactosemia type I · Type 1 galactosemia · Type I galactosemia |
| fr | Déficit en galactose-1-phosphate uridylyltransférase | Déficit en GALT · Galactosémie de type 1 · Galactosémie de type I · Galactosémie par déficit en GALT · Galactosémie par déficit en galactose-1-phosphate uridylyltransferase |
| de | Galaktose-1-Phosphat-Uridyltransferase-Mangel | Galaktosämie durch GALT-Mangel · Galaktosämie durch Galaktose-1-Phosphat-Uridyltransferase-Mangel · GALT-Defizienz · Galaktosämie Typ 1 · Galaktosämie Typ I |
| es | Deficiencia de galactosa-1-fosfato uridililtransferasa | Galactosemia por deficiencia de galactosa-1-fosfato uridililtransferasa · Galactosemia tipo 1 · Galactosemia tipo I · Deficiencia de GALT · Galactosemia por deficiencia de GALT |
| it | Deficit di galattosio-1-fosfato uridiltransferasi | Deficit di GALT · Galattosemia tipo 1 · Galattosemia tipo I · Galattosemia da deficit di GALT · Galattosemia da deficit di galattosio-1-fosfato uridiltransferasi |
| nl | Deficiëntie van galactose-1-fosfaaturidylyltransferase | Galactosemie door GALT-deficiëntie · Type I galactosemie · Type 1 galactosemie · Galactosemie type I · Galactosemie type 1 · GALT-deficiëntie · Galactosemie door deficiëntie van galactose-1-fosfaaturidylyltransferase |
| pt | Galactose-1-phosphate uridylyltransferase deficiency | |
| pl | Galactose-1-phosphate uridylyltransferase deficiency | = en |
| cs | Galactose-1-phosphate uridylyltransferase deficiency | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:352Galactosemia
rare inborn errors of metabolism; rare genetic diseases; rare renal diseases; rare ophthalmic disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/723094
- This record as JSON: /data/d/723094.json