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ORPHA:79237Disease
Also called GALK deficiency · GALK deficiency galactosemia · Galactokinase deficiency galactosemia · Galactosemia type II · Type 2 galactosemia · Type II galactosemia · Galactosemia type 2
What it is
A rare galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, although neonatal elevation of transaminases, bleeding diathesis and encephalopathy might be present in addition to cataract.
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
Very common80–99%
4Sometimes5–29%
9- Hepatomegaly
- Hepatosplenomegaly
- Hypergonadotropic hypogonadism
- Hyperinsulinemia
- Intellectual disability
- Motor delay
- Premature ovarian insufficiency
- Small for gestational age
and 1 more in this range
Rare1–4%
11- Complement deficiency
- Failure to thrive
- Feeding difficulties
- Hypercholesterolemia
- Hypoglycemia
- Microcephaly
- Neonatal asphyxia
- Premature birth
and 3 more in this range
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.
Gene
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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