About Isovaleric acidemia

What is Isovaleric acidemia?

Isovaleric acidemia is an inherited disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine. When this enzyme is deficient, leucine builds up in the body and is converted to isovaleric acid, which can cause a variety of symptoms including vomiting, seizures, and coma.

What are the symptoms of Isovaleric acidemia?

The symptoms of Isovaleric acidemia can vary from mild to severe and can include:

-Poor feeding
-Vomiting
-Lethargy
-Seizures
-Developmental delay
-Hyperactivity
-Irritability
-Sweaty feet
-Muscle weakness
-Unusual body odor
-Breathing difficulties
-Liver and kidney problems
-Heart problems
-Vision and hearing problems

What are the causes of Isovaleric acidemia?

Isovaleric acidemia is caused by a deficiency in the enzyme isovaleryl-CoA dehydrogenase, which is responsible for breaking down the amino acid leucine. This enzyme deficiency leads to a buildup of isovaleric acid in the body, which can cause a variety of symptoms.

What are the treatments for Isovaleric acidemia?

The primary treatment for isovaleric acidemia is dietary management. This includes avoiding foods that are high in leucine, such as cheese, yogurt, and certain meats. It is also important to ensure that the diet is balanced and contains adequate amounts of carbohydrates, proteins, and fats. Additionally, supplementation with carnitine may be recommended to help the body metabolize fatty acids. In some cases, medications such as sodium benzoate may be prescribed to help reduce the levels of isovaleric acid in the blood. In severe cases, a liver transplant may be necessary.

What are the risk factors for Isovaleric acidemia?

1. Genetic predisposition: Isovaleric acidemia is an inherited disorder caused by a mutation in the IVD gene.

2. Ethnicity: Isovaleric acidemia is more common in people of European descent.

3. Diet: Eating a diet high in leucine, isoleucine, and valine can increase the risk of developing isovaleric acidemia.

4. Pregnancy: Pregnant women may be at an increased risk of developing isovaleric acidemia due to hormonal changes.

5. Age: Isovaleric acidemia is more common in infants and young children.

Is there a cure/medications for Isovaleric acidemia?

Yes, there is a cure for isovaleric acidemia. Treatment typically involves a low-protein diet, supplements of the amino acid leucine, and medications to help the body break down and eliminate the excess isovaleric acid. In some cases, a liver transplant may be necessary.