Living with Galactosemia
A genetic condition in which the body can't use a sugar called galactose, found in dairy foods and many baby formulas, to make energy.
Understanding Galactosemia
Galactose is part of lactose, the sugar in dairy products and many baby formulas. In galactosemia the body can't use it for energy. There are several types. Classic galactosemia (type I) is the most common and most severe, and babies need prompt treatment with a low-galactose diet. Type II mainly causes cataracts. Type III has a different pattern of symptoms.
Signs & symptoms
Symptoms vary by type. In classic galactosemia, GARD describes these in affected babies:
- Feeding difficulties
- Lack of energy (lethargy)
- Poor weight gain and growth (failure to thrive)
- Yellowing of the skin and eyes (jaundice)
- Liver damage and abnormal bleeding
- Clouding of the eye lens (cataract)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Galactosemia Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Each type is caused by changes in a particular gene that affect enzymes that break down galactose. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: galactosaemia; galactose intolerance
Patient organizations
- Galactosemia FoundationGalactosemia · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Galactosemia.
Explore research for Galactosemia
Explore actively recruiting Galactosemia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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