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Trehalase deficiency


Title


Other Names:
Trehalose intolerance
Categories:
Metabolic disorders

Summary Summary


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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]
Last updated: 5/3/2016

Symptoms Symptoms


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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]
Last updated: 5/2/2016

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.

Showing of 3 |
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
Showing of 3 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019

Cause Cause


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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]
Last updated: 5/3/2016

Treatment Treatment


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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]
Last updated: 5/4/2016

Statistics Statistics


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Studies suggest that this condition is very rare in general; however it is more frequent in Greenland natives (where it has been reported in 8% of the population).[2][5][7][3] Unfortunately for the rare diseases, there's often not a calculated incidence or prevalence. There is no official method for tracking these conditions. It is possible that the incidence is underreported given the similarity of symptoms to other more common digestive disorders such as irritable bowel syndrome[3]. As the use of trehalose increases, we may see an increase in cases reported in the medical literature. 
 
Last updated: 4/28/2016
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Organizations Organizations


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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

  • Genetic Metabolic Dietitians International
    P.O. Box 1462
    Hillsborough, NC 27278
    E-mail: info@gdmi.org
    Website: http://www.gmdi.org/
  • Metabolic Support UK
    5 Hilliards Court
    Sandpiper Way
    Chester Business Park
    Chester, CH4 9QP United Kingdom
    Toll-free: 0800 652 3181
    Telephone: 0845 241 2173
    E-mail: https://www.metabolicsupportuk.org/contact-us
    Website: https://www.metabolicsupportuk.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a trehalase deficiency, and it is incredibly difficult to find information about it as well as the increasing use in food production. I commonly have reactions to foods that seem safe, only to discover after the fact that they have been treated or grown with trehalose. I also struggle to find up to date information on trehalase deficiency prevalence. See answer


Have a question? Contact a GARD Information Specialist.

References 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. http://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. http://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. http://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. http://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; http://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; http://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; http://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. http://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. http://www.ncbi.nlm.nih.gov/pubmed/26084050.
Do you know of a review article? We want to hear from you.
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You can help advance rare disease research!
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