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GTR Home > Conditions/Phenotypes > Congenital glucose-galactose malabsorption

Congenital glucose-galactose malabsorption

Synonyms
Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; Glucose galactose malabsorption deficiency; Glucose-Galactose Malabsorption; Monosaccharide malabsorption
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe life-threatening watery diarrhea and dehydration. If diagnosed and treated properly, patients can fully recover and show normal growth and development (summary by Xin and Wang, 2011). [from OMIM]

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: D22S675, NAGT, SGLT-1, SGLT1, SLC5A1
    Summary: solute carrier family 5 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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