glucose-galactose malabsorption

Term ID

DOID:0070563

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. https://pubmed.ncbi.nlm.nih.gov/20486940/

References

• GARD:6521
• MESH:C562602
• MIM:606824
• ORDO:35710
• UMLS_CUI:C0268186

Ontology

Human Disease   ( DOID:0070563 )