Term Name: | glucose-galactose malabsorption |
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Synonyms: | GGM, monosaccharide malabsorption, SGLT1 deficiency |
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. |
Ontology: | Human Disease [DOID:0070563] ( DOID:0070563 ) |