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Start free with EleplanGalactose-1-phosphate uridylyltransferase deficiency
ORPHA:723094Clinical group
Also called GALT deficiency · GALT deficiency galactosemia · Galactose-1-phosphate uridylyltransferase deficiency galactosemia · Galactosemia type 1 · Galactosemia type I · Type 1 galactosemia · Type I galactosemia
What it is
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%).
Key facts
- Classified as
- Clinical group
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (at birth, Europe)Galactosemia
- Age of onset
- Childhood, Infancy, NeonatalGalactosemia
- Inheritance
- Autosomal recessiveGalactosemia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Genes reported in subtypes
Orphanet records this gene on 1 more specific entry under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
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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