Trehalase Deficiency

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.