TREHD
MCID: TRH001
MIFTS: 20

Trehalase Deficiency (TREHD)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Trehalase Deficiency

MalaCards integrated aliases for Trehalase Deficiency:

Name: Trehalase Deficiency 56 52 58 73 36 13
Trehalose Intolerance 56 52 73
Alpha, Alpha-Trehalase Deficiency 71
Isolated Trehalose Intolerance 58
Trehd 73

Characteristics:

Orphanet epidemiological data:

58
trehalase deficiency
Inheritance: Autosomal dominant; Prevalence: >1/1000 (Greenland);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
trehalase activity is decreased in patients with untreated celiac disease, and recovers to normal on a gluten-free diet
trehalase activity correlates with duodenal histology, with statistically significant lower values in partial and total villous atrophy compared to normal histology


HPO:

31
trehalase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 612119
KEGG 36 H02090
ICD10 via Orphanet 33 E74.3
UMLS via Orphanet 72 C0268187
Orphanet 58 ORPHA103909
MedGen 41 C0268187
UMLS 71 C0268187

Summaries for Trehalase Deficiency

NIH Rare Diseases : 52 Trehalase deficiency is a metabolic condition in which the body lacks an enzyme called trehalase and is not able to convert trehalose, a disaccharide (sugar composed of two monosaccharides ) into glucose (sugar composed of one monosaccharide). Trehalose is found naturally in mushrooms, algae and insects. Trehalose may additionally be found in manufactured food products, medications, and cosmetics. For trehalose to be digested and absorbed by the digestive system, it must be broken down into glucose. Individuals with this deficiency are therefore unable to breakdown and absorb trehalose. This may lead to vomiting, abdominal discomfort and diarrhea after eating foods containing trehalose. Trehalase deficiency is caused by mutations in the TREH gene . Both autosomal recessive and autosomal dominant inheritance patterns have been described in the medical literature. Treatment involves avoidance or restriction of products that contain trehalose.

MalaCards based summary : Trehalase Deficiency, is also known as trehalose intolerance, and has symptoms including diarrhea An important gene associated with Trehalase Deficiency is TREH (Trehalase), and among its related pathways/superpathways is Starch and sucrose metabolism. Affiliated tissues include colon, and related phenotypes are abdominal pain and diarrhea

OMIM : 56 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). (612119)

KEGG : 36 Trehalase deficiency is a disorder characterized by abdominal pain, distention, and flatulence after trehalose ingestion. Trehalose is a disaccharide found in mushrooms, algae, and insect haemolymph. Intestinal trehalase (encoded by TREH) is a beta-galactosidase which catalyses the hydrolysis of trehalose to two glucose molecules for absorption.

UniProtKB/Swiss-Prot : 73 Trehalase deficiency: An autosomal recessive condition characterized by the inability to digest trehalose, a disaccharide found in mushrooms, products containing baker's yeast, and dried food. Individuals with trehalase deficiency suffer from abdominal pain, increased rectal flatulence, and diarrhea due to osmotic water flow into the colon.

Related Diseases for Trehalase Deficiency

Symptoms & Phenotypes for Trehalase Deficiency

Human phenotypes related to Trehalase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abdominal pain 31 HP:0002027
2 diarrhea 31 HP:0002014

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
abdominal pain
increased flatulence
osmotic diarrhea

Clinical features from OMIM:

612119

UMLS symptoms related to Trehalase Deficiency:


diarrhea

Drugs & Therapeutics for Trehalase Deficiency

Search Clinical Trials , NIH Clinical Center for Trehalase Deficiency

Genetic Tests for Trehalase Deficiency

Anatomical Context for Trehalase Deficiency

MalaCards organs/tissues related to Trehalase Deficiency:

40
Colon

Publications for Trehalase Deficiency

Articles related to Trehalase Deficiency:

(show all 15)
# Title Authors PMID Year
1
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity. 56 6
28406212 2017
2
Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease. 61 56
10884712 2000
3
Trehalase deficiency in Greenland. 61 56
3227291 1988
4
Trehalase deficiency in a family. 61 56
4737205 1973
5
Intestinal disaccharidase activities in relation to age, race, and mucosal damage. 56
100368 1978
6
[Carbohydrate-related nutritional and genetic risks of obesity for indigenous northerners]. 61
30811129 2019
7
[About forest allergens]. 61
23901735 2013
8
Fructose, trehalose and sorbitol malabsorption. 61
24443064 2013
9
Characterization of alpha,alpha-trehalase released in the intestinal lumen by the probiotic Saccharomyces boulardii. 61
18777247 2008
10
Low trehalase activity is associated with abdominal symptoms caused by edible mushrooms. 61
10522609 1999
11
[Trehalose intolerance can be behind the abdominal symptoms caused by mushrooms]. 61
11941647 1999
12
Is the assay of disaccharidase activity in small bowel mucosal biopsy relevant for clinical gastroenterologists? 61
2747134 1989
13
Trehalase deficiency. Prevalence and relation to single-cell protein food. 61
7137952 1982
14
[Carbohydrate absorption and malabsorption (author's transl)]. 61
578285 1977
15
Possibilities for the cytochemical diagnosis of enzymopathies. 61
615485 1977

Variations for Trehalase Deficiency

ClinVar genetic disease variations for Trehalase Deficiency:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TREH NM_007180.3(TREH):c.90-9_106deldeletion Conflicting interpretations of pathogenicity 488190 rs527655595 11:118534132-118534157 11:118663423-118663448

Expression for Trehalase Deficiency

Search GEO for disease gene expression data for Trehalase Deficiency.

Pathways for Trehalase Deficiency

Pathways related to Trehalase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

GO Terms for Trehalase Deficiency

Sources for Trehalase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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