Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Trehalase deficiency

Trehalase deficiency is an autosomal dominant disorder caused by mutations of the TREH gene. Gastrointestinal symptoms can manifest after the ingestion of a larger amount of young edible mushrooms. In older mushrooms trehalose is cleaved into glucose and the symptoms does not appear.

Symptoms

Diarrhea
Diarrhea in patients with trehalase deficiency manifests after the ingestion of greater amounts of trehalase, predominantly in young mushrooms.

Systematic

Food intolerance
Adult type lactose intolerance
Eosinophil peroxidase deficiency
Fructose intolerance
Fructose malabsorption
Fructose-1,6-bisphosphatase deficiency
Fructosuria
Glucose-Galactose Malabsorption
Histamine Intolerance
Lactase deficiency
Lysinuric protein intolerance
Mast cell activation syndrome
Sitosterolemia
Trehalase deficiency
TREH

References:

1.

Welsh JD et al. (1978) Intestinal disaccharidase activities in relation to age, race, and mucosal damage.

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2.

Murray IA et al. (2000) Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease.

external link
3.

Gudmand-Høyer E et al. (1988) Trehalase deficiency in Greenland.

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4.

OMIM.ORG article

Omim 612119 external link
5.

Orphanet article

Orphanet ID 103909 external link
Update: Aug. 14, 2020
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