Living with UDPglucose-4-epimerase deficiency
A very rare moderate to severe form of galactosemia in which the body has trouble using the sugar galactose.
Understanding UDPglucose-4-epimerase deficiency
Signs begin in the newborn period or infancy. They can include feeding problems, vomiting, weight loss, jaundice, an enlarged liver and spleen, cataracts, and delays in growth and development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Feeding difficulties
- Nausea and vomiting
- Yellow skin and eyes (jaundice)
- Enlarged liver (hepatomegaly)
- Cataract
- Global developmental delay
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 digestive system specialists, eye disease specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in GALE 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
- Digestive system specialists (gastroenterologists); 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
This condition is caused by changes in the GALE gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: epimerase deficiency; epimerase deficiency galactosemia; galactose epimerase deficiency; galactosemia - epimerase deficiency; galactosemia iii; galactosemia type 3
Patient organizations
- Galactosemia FoundationUDPglucose-4-epimerase deficiency · 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 UDPglucose-4-epimerase deficiency.
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