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Start free with EleplanClinical variant galactosemia
ORPHA:723101Disease
What it is
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.
Key facts
- Age of onset
- Neonatal
- Classified as
- Disease
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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