glucose-galactose malabsorption
Findings
No curated finding names glucose-galactose malabsorption yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011731), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chronic diarrheaHPOHP:0002028
- 2 of 2 reported patients
- Hypertonic dehydrationHPOHP:0001986
- 2 of 2 reported patients
- DehydrationHPOHP:0001944
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Osmotic diarrheaHPOHP:0033310
- Very frequent (80% to 99% of cases)
- Weight lossHPO
Show the remaining 5
- Kidney stoneHPOHP:0000787
- Occasional (5% to 29% of cases)
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
- VomitingHPOHP:0002013
- Occasional (5% to 29% of cases)
- FeverHPOHP:0001945
- Very rare (1% to 4% of cases)
- HematuriaHPOHP:0000790
- Very rare (1% to 4% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC5A1HGNC:11036
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: glucose-galactose malabsorption
- Also called
- SGLT1 deficiency