Living with Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Also called classic galactosemia, a metabolic condition where the body cannot process the sugar galactose.
Understanding Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Metabolic diseases occur when the body cannot turn food into energy. Symptoms usually start in the first few days of life and may include trouble feeding and excessive sleepiness. Over time, babies may develop severe liver disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble feeding
- Excessive sleepiness
- Severe liver disease
- Cataracts
- Delayed speech and language
- Delayed puberty
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 brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in GALT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- 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
Changes in the GALT gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: classic galactosemia; classical galactosemia; deficiency of galactose-1-phosphate uridyl transferase; deficiency of hexose-1-phosphate uridylyltransferase; deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase; deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase
Patient organizations
- Galactosemia FoundationDeficiency of UDPglucose-hexose-1-phosphate uridylyltransferase · United States
- Resolve: The National Infertility AssociationInfertility · 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 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase.
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