diarrhea-vomiting due to trehalase deficiency

Diarrhea-vomiting due to trehalase deficiency is a condition characterized by gastrointestinal distress, diarrhea and vomiting, following the ingestion of trehalose, a sugar commonly found in mushrooms. The underlying cause involves alterations in the TREH gene, which encodes the enzyme trehalase responsible for breaking down trehalose. This condition is inherited in an autosomal recessive manner, meaning that affected individuals inherit two mutated copies of the gene, one from each parent. Prevalence estimates for this condition are not well established, underscoring its rare occurrence.

Individuals with diarrhea-vomiting due to trehalase deficiency typically experience gastrointestinal symptoms shortly after consuming foods containing trehalose. The most prominent clinical features are episodes of diarrhea and vomiting, which may lead to dehydration if not promptly managed. Not all individuals experience all features, and severity varies considerably between affected persons.

This condition is caused by pathogenic variants in the TREH gene, which is responsible for producing the enzyme trehalase. A deficiency of trehalase disrupts the normal digestion of trehalose, resulting in the gastrointestinal symptoms observed in affected individuals. It is inherited in an autosomal recessive pattern, meaning that a person must inherit one defective copy of the gene from each parent to develop the condition. Families are encouraged to seek genetic counseling to better understand the inheritance pattern and potential risks for future offspring.

Currently, management focuses on supportive care and symptom relief. Treatment is individualized and typically involves a multidisciplinary team that addresses hydration and nourishment while alleviating gastrointestinal discomfort. Patients should discuss available management strategies with their healthcare team to determine the most appropriate approach, and genetic counseling is recommended to address familial concerns.

Outcomes for individuals with diarrhea-vomiting due to trehalase deficiency vary depending on symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals are able to maintain a good quality of life through effective management of symptoms, although the course of the condition can be variable. Severity and symptoms vary widely between individuals, and outcomes described in the medical literature continue to evolve as care continues to improve. Families often find it helpful to connect with specialists familiar with the condition and to seek genetic counseling for further guidance.