Rare Gastroenterology News

Disease Profile

Trehalase deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

E74.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Trehalose intolerance

Categories

Metabolic disorders

Summary

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.[1][2][3][4] This may lead to vomiting, abdominal discomfort and diarrhea after eating foods containing trehalose.[5][6] Trehalase deficiency is caused by mutations in the TREH gene.[6] Both autosomal recessive and autosomal dominant inheritance patterns have been described in the medical literature.[7][3] Treatment involves avoidance or restriction of products that contain trehalose.[4]

Symptoms

Individuals that have trehalase deficiency experience abdominal discomfort after consuming foods that contains trehalose, a type of sugar. The symptoms are typically similar to irritable bowel syndrome and might include: bloating, abdominal pain, diarrhea, vomiting, and gas.[6][3]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Autosomal recessive inheritance
0000007
Diarrhea
Watery stool
0002014

Cause

Trehalase deficiency is caused by mutations in the TREH gene. The TREH gene codes for an enzyme that breaks down trehalose, a sugar made of two glucose molecules (disaccharide) into a digestible sugar or glucose, called a monosaccharide.[6][7][8] When there is a mutation in the TREH gene, the enzyme has reduced or absent function, which results in undigested sugar entering into the bowel (digestive system). There, it goes through a process called fermentation, where sugars are converted to acids, gases, or alcohol. This leads to the production of gases, diarrhea, and other symptoms of abdominal pain and discomfort.[7][8]

Treatment

There is no cure for trehalase deficiency. Treatment involves avoidance or restriction of foods that contain trehalose.[7][3] 

Trehalose is found naturally in mushrooms, algae, and insects.[6] Trehalose received the GRAS (Generally Recognized As Safe) status from the U.S. Food and Drug Administration as a food additive in 2000.[9] Since that time, trehalose has been utilized in many capacities in food production due to its chemical makeup and properties including taste enhancement, food preservation, and stabilization against heat and cold. Food products that may contain trehalose or are predicted to contain trehalose in the future include: dried foods (cereal, powdered milk, beans), frozen foods, confection (candy, gum, chocolate), confectionary (cake, jam, cream), beverages (coffee, tea, fruit juices), and fermented food (bread, yogurt). Trehalose additionally might be utilized in medical and cosmetic products.[2][10][11]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Trehalase deficiency. Click on the link to view a sample search on this topic.

      References

      1. Murray IA, Coupland K, Smith JA, Ansell ID, Long RG. Intestinal trehalase activity in a UK population: establishing a normal range and the effect of disease. British Journal of Nutrition. 2000; 83:241-245. https://journals.cambridge.org/action/displayFulltext?type=1&fid=880176&jid=BJN&volumeId=83&issueId=03&aid=880164.
      2. Abbott PJ, Chen J. WHO Food Additives Series 46: Trehalose. International Programme on Chemical Safety. https://www.inchem.org/documents/jecfa/jecmono/v46je05.htm.
      3. M. MONTALTO, A. GALLO, V. OJETTI, A. GASBARRINI. Fructose, trehalose and sorbitol malabsorption. European Review for Medical and Pharmacological Sciences. 2013; 17(Suppl2):26-29. https://www.europeanreview.org/wp/wp-content/uploads/026-0291.pdf.
      4. A.B Richardsa, S Krakowkab, L.B Dexterc, H Schmidd, A.P.M Wolterbeeke, D.H Waalkens-Berendsene, A Shigoyukif, M Kurimotof. Trehalose: a review of properties, history of use and human tolerance, and results of multiple safety studies. Food and Chemical Toxicology. July 2002; 40(7):871-898. https://www.ncbi.nlm.nih.gov/pubmed/12065209.
      5. Kleinman RE, Goulet O, Mieli-Vergani G, Sherman PM. Walker's Pediatric Gastrointestinal Disease: Physiology, Diagnosis, Management, 5th edition. 2008;
      6. Victor A. McKusick. Trehalase Deficiency. In: Marla J. F. O'Neill. Online Mendelian Inheritance in Man (OMIM). 2010; https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612119. Accessed 2/4/2010.
      7. Swallow DM, Poulter M, Hollox EJ. Intolerance to Lactose and Other Dietary Sugars. Drug Metabolism and Disposition. 2001; https://dmd.aspetjournals.org/content/29/4/513.full.
      8. TREH trehalase. Genetics Home Reference. https://ghr.nlm.nih.gov/gene/TREH. Accessed 5/3/2016.
      9. U.S. Food and Drug Administration. Agency Response Letter GRAS Notice No. GRN 000045. 10/07/2014; https://www.fda.gov/Food/IngredientsPackagingLabeling/GRAS/NoticeInventory/ucm154119.htm.
      10. Chiara Schiraldi, Isabella Di Lernia, Mario De Rosa. Trehalose production: exploiting novel approaches. Trends in Biotechnology. October 2002; 20(10):420-425. https://www.ncbi.nlm.nih.gov/pubmed/12220904.
      11. Maarten Walmagh, Renfei Zhao and Tom Desmet. Trehalose Analogues: Latest Insights in Properties and Biocatalytic Production. Int.J.Mol.Sci. Jun 2015; 16(6):13729-45. https://www.ncbi.nlm.nih.gov/pubmed/26084050.

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