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Start free with EleplanBiochemical variant galactosemia
ORPHA:723106Biological anomaly
Also called Duarte D2 variant · Duarte galactosemia · Duarte variant galactosemia
What it is
A form GALT deficiency characterized by high residual GALT activity (typically 25-30% of control activity) in otherwise asymptomatic patients. No follow-up is required.
Key facts
- Classified as
- Biological anomaly
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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