Trehalase deficiency is a rare genetic disorder that affects the body's ability to break down a type of sugar called trehalose. Trehalose is found in some foods, such as mushrooms, and is also produced by the body. People with this disorder are unable to break down trehalose, leading to a buildup of the sugar in the body. Symptoms of trehalase deficiency can include seizures, developmental delays, and difficulty with coordination. Treatment typically involves a low-trehalose diet and medications to help manage symptoms.

The symptoms of Trehalase deficiency can vary depending on the severity of the condition, but may include:

-Poor growth
-Developmental delay
-Feeding difficulties
-Vomiting
-Diarrhea
-Dehydration
-Hypoglycemia
-Lethargy
-Weakness
-Muscle cramps
-Seizures
-Coma
-Respiratory distress
-Liver and kidney dysfunction

Trehalase deficiency is caused by a genetic mutation in the TREH gene, which is responsible for producing the enzyme trehalase. This mutation can be inherited from a parent or can occur spontaneously. Other causes of Trehalase deficiency include certain medications, such as anticonvulsants, and certain medical conditions, such as cystic fibrosis.

The primary treatment for Trehalase deficiency is a low-trehalose diet. This means avoiding foods that contain trehalose, such as mushrooms, honey, and some processed foods. Additionally, dietary supplements such as vitamin B12, folate, and thiamine may be recommended to help manage symptoms. In some cases, enzyme replacement therapy may be recommended to help the body break down trehalose.

The risk factors for Trehalase deficiency include:

1. Genetic predisposition: Trehalase deficiency is an inherited disorder caused by mutations in the TREH gene.

2. Ethnicity: Trehalase deficiency is more common in certain ethnic groups, such as Ashkenazi Jews and people of Mediterranean descent.

3. Age: Trehalase deficiency is more common in infants and young children.

4. Exposure to certain medications: Certain medications, such as antibiotics, can interfere with the body’s ability to produce trehalase.

At this time, there is no known cure for Trehalase deficiency. However, there are medications that can help manage the symptoms of the condition. These include anticonvulsants, anti-inflammatory medications, and medications to help with muscle spasms. Additionally, dietary modifications may be recommended to help manage the symptoms.