Transketolase deficiency is a rare inherited disorder that affects the body's ability to break down certain sugars. It is caused by a deficiency of the enzyme transketolase, which is responsible for breaking down certain sugars in the body. People with this disorder may experience a variety of symptoms, including fatigue, poor growth, and neurological problems. Treatment typically involves dietary changes and supplementation with vitamins and minerals.

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

-Fatigue

-Weakness
-Headaches
-Numbness or Tingling in the hands and feet
-Loss of coordination
-Difficulty concentrating
-Depression
-Anemia
-Abnormal heart rhythms
-Liver and kidney problems
-Vision problems
-Seizures
-DevelopMental delays in children

Transketolase deficiency is caused by mutations in the TKT gene, which provides instructions for making an enzyme called transketolase. This enzyme is involved in a metabolic pathway known as the pentose phosphate pathway, which is important for producing energy and certain molecules needed for cell growth and division. Mutations in the TKT gene can lead to a decrease in the activity of transketolase, resulting in a buildup of certain molecules in the body and a deficiency of other molecules. This can lead to a variety of symptoms, including anemia, neurological problems, and vision problems.

The primary treatment for Transketolase deficiency is to manage the symptoms and complications associated with the condition. This may include dietary changes, vitamin supplementation, and medications to reduce fatigue, improve cognitive function, and manage other symptoms. In some cases, a bone marrow transplant may be recommended to replace the defective enzyme.

1. Genetic mutations: Transketolase deficiency is caused by mutations in the TKT gene, which provides instructions for making the enzyme transketolase.

2. Family history: Transketolase deficiency is an inherited disorder, so having a family history of the condition increases the risk of developing it.

3. Age: Transketolase deficiency is more common in older adults.

At this time, there is no known cure for Transketolase deficiency. However, there are medications that can help manage the symptoms of the condition. These medications include anticonvulsants, anti-inflammatory drugs, and vitamins. Additionally, dietary changes and lifestyle modifications may help reduce the severity of symptoms.