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Start free with EleplanGalactose epimerase deficiency
ORPHA:79238Disease
Also called GALE deficiency · GALE deficiency galactosemia · Galactose epimerase deficiency galactosemia · Galactosemia type 3 · Galactosemia type III · Type 3 galactosemia · Type III galactosemia · UDP-galactose-4-epimerase deficiency · Uridine diphosphate galactose-4-epimerase deficiency
What it is
A rare galactosemia characterized by a spectrum of clinical presentations. In the peripheral form, GALE impairment is restricted to circulating red and white blood cells, with normal or near-normal levels in fibroblasts and/or other tissues (liver, EBV transformed fibroblasts). The intermediate form is defined as a deficient GALE enzyme activity in red and white blood cells, and < 50% of normal enzyme levels in fibroblasts and/or other tissues. In generalized GALE deficiency, the enzyme activity is profoundly decreased in all tissues.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (at birth, Europe)Galactosemia
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.
Signs and symptoms
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records this gene on 2 more specific entries 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.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
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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