Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

glucose-galactose malabsorption - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glucose-galactose malabsorption

MONDO:0011731

Also known as:SGLT1 deficiencyComplex carbohydrate intoleranceGGM

Find Clinical TrialsTrials

Overview

Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.

GeneticsAutosomal recessive · SLC5A1 (chr 22)

Clinical Trials3 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypertonic dehydration and Chronic diarrhea. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Malabsorption, Abdominal distention, Chronic diarrhea
Growth and development

Genetic Landscape

SLC5A1 function has not been fully characterized.

Glucose-galactose malabsorption is associated with mutations in the SLC5A1 gene on chromosome 22.

Diagnosis

Genetic testing for SLC5A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered. Interventions under study include other interventions and procedural interventions. Pipeline includes 2 NA. Research is primarily sponsored by academic and government institutions.

10 publications have been identified in PubMed for glucose-galactose malabsorption. Research spans Case Report / Case Series (70%), Other (10%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	7

Data assembled from 7 of 12 sources · Last updated Oct 4, 2026, 6:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606824

Orphanet

European rare disease database

Orphanet:35710

GARD

Genetic and Rare Diseases Info Center

GARD:6521

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

glucose-galactose malabsorption

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

glucose-galactose malabsorption

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications