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alpha, alpha-Trehalase deficiency

MedGen UID:
75660
Concept ID:
C0268187
Disease or Syndrome
Synonyms: Diarrhea-vomiting due to trehalase deficiency; Trehalase deficiency; Trehalose intolerance
SNOMED CT: Alpha, alpha-trehalase deficiency (84193000); Trehalose intolerance (84193000); Trehalase deficiency (84193000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): TREH (11q23.3)
 
Monarch Initiative: MONDO:0012803
OMIM®: 612119
Orphanet: ORPHA103909

Definition

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). [from OMIM]

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGValpha, alpha-Trehalase deficiency
Follow this link to review classifications for alpha, alpha-Trehalase deficiency in Orphanet.

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