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Start free with EleplanClassic galactosemia
ORPHA:79239Disease
What it is
A rare genetic disorder of galactose metabolism characterized by onset of life-threatening disease triggered by breastfeeding or the ingestion of lactose/galactose-containing formula. Infants usually develop feeding difficulties, lethargy, and severe liver disease.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Netherlands)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
4Common30–79%
24- Abnormality of coagulation
- Action tremor
- Cataract
- Decreased fertility in females
- Decreased serum insulin-like growth factor 1
- Delayed puberty
- Delayed speech and language development
- Elevated circulating hepatic transaminase concentration
- Food intolerance
- Global developmental delay
- Grammar-specific speech disorder
- Hepatic failure
- Hepatomegaly
- Intellectual disability, mild
- Jaundice
- Mental deterioration
- Oligomenorrhea
- Postural tremor
- Premature ovarian insufficiency
- Primary amenorrhea
- Secondary amenorrhea
- Specific learning disability
- Speech articulation difficulties
- Vomiting
Sometimes5–29%
25- Abnormality of higher mental function
- Anxiety
- Ataxia
- Attention deficit hyperactivity disorder
- Autistic behavior
- Bone fracture
- Clumsiness
- Cryptorchidism
and 17 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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