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Glucose-galactose malabsorption

Disease definition

A rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.

ORPHA:35710

Classification level: Disorder
  • Synonym(s):
    • SGLT1 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E74.3
  • ICD-11: 5C61.0
  • OMIM: 606824
  • UMLS: C0268186
  • MeSH: -
  • GARD: 6521
  • MedDRA: 10066388

  A summary on this disease is available in Deutsch (2006) Español (2016) Français (2016) Nederlands (2016)

Additional information

Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.