Transaldolase deficiency is a rare genetic disorder caused by a mutation in the TALDO1 gene. This gene is responsible for producing an enzyme called transaldolase, which is involved in the pentose phosphate pathway. This pathway is important for the production of energy and the metabolism of certain sugars. People with transaldolase deficiency may experience a variety of symptoms, including seizures, developmental delays, and vision and hearing problems. Treatment typically involves dietary modifications and supplementation with vitamins and minerals.

The symptoms of Transaldolase deficiency can vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Behavioral problems
-Liver and kidney problems
-Muscle weakness
-Hypoglycemia
-Hypotonia
-Cardiac arrhythmias

Transaldolase deficiency is a rare genetic disorder caused by mutations in the TALDO1 gene. This gene provides instructions for making an enzyme called transaldolase, which is involved in a metabolic pathway known as the pentose phosphate pathway. Mutations in the TALDO1 gene lead to a decrease in the amount of transaldolase enzyme, which disrupts the pentose phosphate pathway and causes a buildup of certain molecules in the body. This buildup can lead to a variety of symptoms, including anemia, jaundice, and neurological problems.

The treatments for Transaldolase deficiency vary depending on the severity of the condition. Generally, treatments focus on managing the symptoms and preventing complications. These may include dietary modifications, physical therapy, medications to reduce seizures, and supplements to replace missing enzymes. In some cases, a bone marrow transplant may be recommended.

1. Genetic mutations: Transaldolase deficiency is caused by mutations in the TALDO1 gene, which provides instructions for making the transaldolase enzyme.

2. Family history: Transaldolase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

3. Ethnicity: Transaldolase deficiency is more common in certain ethnic groups, including Ashkenazi Jews, Sephardic Jews, and individuals of Italian descent.

At this time, there is no known cure or specific medications for Transaldolase deficiency. Treatment focuses on managing symptoms and preventing complications. This may include dietary changes, physical therapy, and medications to treat seizures or other symptoms.