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Glucose-galactose malabsorption

Orpha number ORPHA35710
Synonym(s) SGLT1 deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E74.3
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA
  • 10066388
SNOMED CT
  • 190749000
  • 27943000

Summary

Glucose-galactose malabsorption is characterised by diarrhoea and severe neonatal dehydration. Around 300 cases have been described to date. Moderate glucosuria has also been reported, but fructose absorption is normal. Glucose-galactose malabsorption is caused by a mutation in the SLC5A1 gene, encoding the glucose-sodium cotransporter, SGTL1. The mode of transmission is autosomal recessive. The fatal consequences of this syndrome can be avoided by following a glucose and galactose restricted diet.


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