Clinical variant galactosemia
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A form GALT deficiency characterized by residual GALT activity between 1-10% of control activity. Clinical features are similar to the patients presenting with classic galactosemia, including life threatening complications including feeding problems, failure to thrive, hepatocellular damage include cirrhosis and bleeding in untreated infants. With adequate and early treatment patients do not usually present risk for long-term complications, including premature ovarian insufficiency. Compared to classic galactosemia patients usually are not considered as having a high risk for developmental delay, speech and motor function abnormalities.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Clinical variant galactosemia | |
| fr | Galactosémie variante clinique | |
| de | Klinische Variante der Galaktosämie | |
| es | Galactosemia variante clínica | |
| it | Galattosemia variante clinica | |
| nl | Klinische variant van galactosemie | |
| pt | Clinical variant galactosemia | |
| pl | Clinical variant galactosemia | |
| cs | Clinical variant galactosemia |
Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:723094Galactose-1-phosphate uridylyltransferase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare renal diseases; rare ophthalmic disorders - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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/723101
- This record as JSON: /data/d/723101.json