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glucose-galactose malabsorption
Summary
- Synonym
-
- GGM
- SGLT1 deficiency
- monosaccharide malabsorption
- Definition
- A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3.
- Super Class
- autosomal recessive disease glucose metabolism disease
External Links
- Disease Ontology
- DOID:0070563
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P13866 | Sodium/glucose cotransporter 1 |
