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Diseases

Genetic and Rare Diseases Information Center (GARD)

Trehalase deficiency


Other Names for this Disease
  • Trehalose intolerance
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Overview

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

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.
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In Depth Information

  • 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.
Other Names for this Disease
  • Trehalose intolerance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.