Living with Galactosemia 4
A rare condition in which the body has trouble handling galactose, a sugar in milk products, often noticed as cataracts in babies.
Understanding Galactosemia 4
Babies are affected from the newborn period or infancy. GARD says patients may have cataracts in both eyes, while stomach and bowel symptoms or severe liver problems are absent. With early treatment using a galactose-restricted diet, severe problems such as neurological symptoms have not been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists this as the most common:
- Clouding of the lens of the eye (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.
- 3Consider genetic testing
Changes in GALM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 National Kidney 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
Changes in the GALM gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: deficiency of galactose mutarotase; galac4; galactose mutarotase deficiency; galactosemia iv; galactosemia type 4; galm (galactose mutarotase) deficiency
Patient organizations
- 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 4.
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