About Acidemia Isovaleric

What is Acidemia Isovaleric?

Acidemia Isovaleric 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, which is found in many foods. 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 Acidemia Isovaleric?

The symptoms of Acidemia Isovaleric include:

-Poor feeding
-Vomiting
-Lethargy
-Seizures
-Developmental delay
-Hyperactivity
-Muscle weakness
-Hypotonia
-Hypoglycemia
-Metabolic acidosis
-Ketosis
-Elevated levels of isovaleric acid in the blood and urine

What are the causes of Acidemia Isovaleric?

Acidemia Isovaleric is a rare inherited metabolic disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine, which is found in many foods. When the enzyme is deficient, leucine builds up in the body and is converted to isovaleric acid, which can cause a variety of symptoms.

Common causes of Acidemia Isovaleric include:

1. Genetic mutations: Mutations in the IVD gene can cause Acidemia Isovaleric. These mutations can be inherited from a parent or can occur spontaneously.

2. Diet: Eating a diet high in leucine can increase the risk of developing Acidemia Isovaleric.

3. Medications: Certain medications, such as valproic acid

What are the treatments for Acidemia Isovaleric?

1. Dietary modifications: Avoiding foods that are high in leucine, isoleucine, and valine, such as dairy products, red meat, and legumes, can help reduce the symptoms of acidemia isovaleric.

2. Medications: Medications such as sodium benzoate, sodium phenylbutyrate, and carnitine can help reduce the levels of isovaleric acid in the blood.

3. Dialysis: In severe cases, dialysis may be necessary to remove the excess acid from the body.

4. Liver transplant: In some cases, a liver transplant may be necessary to treat acidemia isovaleric.

What are the risk factors for Acidemia Isovaleric?

1. Premature birth
2. Genetic disorders such as Isovaleric Acidemia
3. Low levels of the enzyme isovaleryl-CoA dehydrogenase
4. Inadequate dietary intake of leucine
5. Inadequate dietary intake of thiamine
6. Inadequate dietary intake of biotin
7. Inadequate dietary intake of choline
8. Inadequate dietary intake of carnitine
9. Inadequate dietary intake of vitamin B6
10. Inadequate dietary intake of vitamin B12
11. Inadequate dietary intake of folate
12. Inadequate dietary intake of iron
13. Inadequate dietary intake of zinc
14. Inadequate dietary intake of copper
15. Inadequate dietary intake of magnesium
16. Inadequate

Is there a cure/medications for Acidemia Isovaleric?

Yes, there is a medication available to treat acidemia isovaleric. It is called sodium benzoate and it works by helping to break down the excess isovaleric acid in the body. It is usually given as an intravenous infusion and can be used to reduce the symptoms of acidemia isovaleric. Additionally, dietary changes and supplements may be recommended to help manage the condition.