Preferred Label : Trehalase deficiency;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Trehalose intolerance;
Description : Trehalose is a disaccharide found in mushrooms, algae, and insect hemolymph; mushrooms
and products containing baker's yeast are thus the only sources of trehalose in the
human diet. The high concentration of trehalose in cryptobiotic plants is responsible
for their remarkable ability to go through cycles of desiccation and rehydration without
injury. This led to interest by the food industry in the addition of trehalose to
foodstuffs to improve the longevity and quality of dried food. However, ingestion
of a disaccharide in an individual who cannot digest it results in osmotic diarrhea,
abdominal pain, and increased rectal flatulence (summary by Murray et al., 2000).
Isolated trehalose intolerance due to deficiency of trehalase (TREH; 275360) is probably
rare in adult white Americans (Welsh et al., 1978), but has been estimated at 8% in
Greenlanders (Gudmand-Hoyer et al., 1988).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the trehalase gene (TREH, 275360.0001);
Prefixed ID : #612119;
Origin ID : 612119;
UMLS CUI : C0268187;
Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
