Living with Congenital glucose-galactose malabsorption
A rare inherited condition in which a baby cannot absorb the sugars glucose and galactose, causing severe diarrhea.
Understanding Congenital glucose-galactose malabsorption
It mainly causes severe diarrhea starting in infancy, with weight loss and dehydration. Signs appear when babies are fed breast milk or regular formulas, which contain glucose, galactose and lactose. Rarely, babies develop kidney stones from calcium deposits. If foods with these sugars are removed from the diet, the diarrhea stops.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe diarrhea
- Dehydration
- Weight loss and slow weight gain
- Swollen belly
- Sugar in the urine (mild glucosuria)
- Kidney stones (rare)
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 and genetic specialists.
- 3Consider genetic testing
Changes in SLC5A1 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); Genetic specialists (geneticists)
- 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
- 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 SLC5A1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: diarrhea 16; ggm; glucose-galactose malabsorption; monosaccharide malabsorption; sglt1 deficiency
Patient organizations
- Galactosemia FoundationCongenital glucose-galactose malabsorption · United States
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