Orphanet: Trehalase deficiency
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Trehalase deficiency

Disease definition

A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere.

ORPHA:103909

Classification level: Disorder
  • Synonym(s):
    • Isolated trehalose intolerance
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: E74.3
  • ICD-11: 5C61.3
  • OMIM: 612119
  • UMLS: C0268187
  • MeSH: -
  • GARD: 10372
  • MedDRA: -

  A summary on this disease is available in Português (2008) Deutsch (2019) Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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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.