Triose phosphate-isomerase deficiency (TPI deficiency) is a rare inherited metabolic disorder caused by a deficiency of the enzyme triose phosphate isomerase. This enzyme is responsible for converting the sugar molecule dihydroxyacetone phosphate (DHAP) into glyceraldehyde-3-phosphate (G3P), which is an important step in the metabolic pathway that produces energy for the body. People with TPI deficiency have an inability to produce energy from glucose, leading to a variety of symptoms including seizures, developmental delays, and muscle weakness.

The symptoms of Triose phosphate-isomerase deficiency vary depending on the severity of the condition, but may include:

-Developmental delay
-Seizures
-Feeding difficulties
-Growth failure
-Hepatomegaly (enlarged liver)
-Hyperammonemia (elevated levels of ammonia in the blood)
-Hypoglycemia (low blood sugar)
-Lactic acidosis (buildup of lactic acid in the body)
-Neurological problems
-Muscle weakness
-Hypotonia (low muscle tone)
-Hearing loss
-Vision problems
-Cardiac abnormalities
-Gastrointestinal problems
-Skin rashes

Triose phosphate-isomerase deficiency is a rare inherited disorder caused by mutations in the TPI1 gene. This gene provides instructions for making an enzyme called triose phosphate isomerase, which is involved in the breakdown of sugar molecules. Mutations in the TPI1 gene reduce or eliminate the activity of this enzyme, leading to a buildup of certain sugar molecules in the body and the signs and symptoms of the disorder.

The primary treatment for Triose phosphate-isomerase deficiency is supportive care. This includes dietary modifications, such as avoiding foods high in fructose and galactose, as well as avoiding strenuous physical activity. Other treatments may include enzyme replacement therapy, which involves the administration of a synthetic form of the enzyme, as well as gene therapy, which involves the introduction of a healthy gene into the patient's cells. In some cases, bone marrow transplantation may be recommended.

1. Family history of Triose phosphate-isomerase deficiency
2. Inheritance of two mutated copies of the TPI gene
3. Exposure to certain environmental toxins
4. Exposure to certain medications
5. Exposure to certain infections

At this time, there is no cure for Triose phosphate-isomerase deficiency. However, there are medications that can help manage the symptoms of the disorder. These medications include anticonvulsants, anti-inflammatory drugs, and enzyme replacement therapy. Additionally, dietary modifications and physical therapy may be recommended to help manage the symptoms.