Living with Alpha, alpha-Trehalase deficiency
A condition in which the body can't break down trehalose, a sugar in mushrooms and some foods, causing stomach upset.
Understanding Alpha, alpha-Trehalase deficiency
Trehalose is a sugar found naturally in mushrooms, algae, and insects, and in some manufactured foods, medicines, and cosmetics. Without the enzyme trehalase, the body can't break it down into glucose to absorb it. This may cause vomiting, belly discomfort, and diarrhea after eating foods that contain trehalose. It starts in the teen years or adulthood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary says these may follow foods with trehalose:
- Vomiting
- Belly discomfort
- Diarrhea
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TREH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TREH gene cause this condition. GARD says both autosomal recessive and autosomal dominant patterns have been described.
Also known as: diarrhea-vomiting due to trehalase deficiency; isolated trehalose intolerance; trehalase deficiency; trehalose intolerance
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alpha, alpha-Trehalase deficiency.
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