Pyruvate dehydrogenase E2 deficiency is a rare genetic disorder that affects the body's ability to break down certain proteins and carbohydrates. It is caused by a mutation in the gene that codes for the enzyme pyruvate dehydrogenase E2 (PDHE2). This enzyme is responsible for converting pyruvate, a molecule produced during the breakdown of carbohydrates, into acetyl-CoA, which is then used in the Krebs cycle to produce energy. Without PDHE2, pyruvate accumulates in the body, leading to a variety of symptoms including seizures, developmental delays, and movement disorders.

The symptoms of Pyruvate dehydrogenase E2 deficiency can vary from person to person, but may include:

-Developmental delay
-Seizures
-Movement disorders
-Growth retardation
-Muscle weakness
-Fatigue
-Lactic acidosis
-Hypoglycemia
-Neurological problems
-Gastrointestinal problems
-Feeding difficulties
-Failure to thrive

Pyruvate dehydrogenase E2 deficiency is caused by mutations in the PDH E2 subunit gene, which is responsible for the production of the enzyme pyruvate dehydrogenase E2. This enzyme is essential for the metabolism of carbohydrates and fats, and its deficiency can lead to a variety of metabolic disorders. Other causes of Pyruvate dehydrogenase E2 deficiency include deficiencies in other enzymes involved in the metabolism of carbohydrates and fats, as well as certain genetic disorders.

The primary treatment for pyruvate dehydrogenase E2 deficiency is a low-protein, low-carbohydrate diet. This diet helps to reduce the amount of pyruvate in the body, which can help reduce symptoms. Other treatments may include vitamin and mineral supplements, medications to reduce seizures, and physical therapy. In some cases, a ketogenic diet may be recommended. This diet is high in fat and low in carbohydrates and can help reduce seizures. In severe cases, a liver transplant may be necessary.

1. Genetic mutations: Pyruvate dehydrogenase E2 deficiency is caused by mutations in the PDHA1, PDHB, PDHX, DLD, and DLAT genes.

2. Family history: Pyruvate dehydrogenase E2 deficiency can be inherited from a parent who carries the mutated gene.

3. Ethnicity: Pyruvate dehydrogenase E2 deficiency is more common in certain ethnic groups, such as Ashkenazi Jews, French Canadians, and Amish.

4. Premature birth: Babies born prematurely are at an increased risk of developing Pyruvate dehydrogenase E2 deficiency.

At this time, there is no cure for pyruvate dehydrogenase E2 deficiency. However, medications such as biotin, thiamine, and riboflavin can be used to help manage the symptoms of the condition. Additionally, a low-protein diet and dietary supplements may be recommended to help reduce the symptoms.