Isovaleric Acidemia: Causes, Symptoms, Diagnosis, Treatment

What Is Isovaleric Acidemia?

Isovaleric Acidemia is an uncommon medical condition in which the body is not able to break down certain proteins appropriately. Isovaleric Acidemia is also called as an organic acid disorder and this condition causes buildup of specific acids called as organic acids. If the levels of these organic acids reach abnormal levels in the blood or urine, then they pose serious threat to the health of an individual. Under normal circumstances, the body breaks down proteins present in food into smaller substances called amino acids, which are further broken down by the body to provide energy to the body and facilitate growth. Individuals with Isovaleric Acidemia have abnormal levels of a specific enzyme, which facilitates breakdown of an amino acid called leucine. Health problems associated with Isovaleric Acidemia are variable and can be mild to even life threatening in some cases. When this condition is in the acute phase, features of this disease become apparent within a few days after birth and include poor feeding, frequent vomiting, seizures, and extreme lethargy. If left untreated it may advance to more serious complications to include coma and even death. One of the characteristic features of Isovaleric Acidemia is a distinct odor of sweat in the feet.

What Is Isovaleric Acidemia?

What Are The Causes Of Isovaleric Acidemia?

For the body to function appropriately and for an individual to stay healthy appropriate intake of proteins is vital. This protein is obtained by the body from the food that one eats. The body breaks down the food into smaller substances called as amino acids. Once amino acids are formed, then specific enzymes further break down these amino acids and facilitate growth and provide energy to the body. Isovaleric Acidemia develops when an enzyme called isovaleryl-CoA dehydrogenase is either malfunctioning or is completely absent from the body. The function of this enzyme is to break down a substance known as isovaleryl-CoA. This substance is made in the body when the amino acid called leucine is broken down. If a child with Isovaleric Acidemia eats food rich in protein, then the child invariably eats food containing leucine which results in build up of Isovaleric acid as this amino acid is unable to be broken down by the body and results in various health problems.

What Are The Symptoms Of Isovaleric Acidemia?

Symptoms of Isovaleric Acidemia Include:

  • Extremely poor appetite
  • Lethargy
  • Vomiting
  • Inability to stay warm
  • Distinct odor from the feet
  • Medical condition called as metabolic acidosis
  • Elevated ammonia levels in blood
  • Presence of ketones in urine
  • Low platelet count
  • Low white blood cell count
  • Seizures
  • Encephalopathy
  • Coma and sometimes death. (in severe cases)

How Is Isovaleric Acidemia Diagnosed?

Genetic Testing is suggested for diagnosing Isovaleric Acidemia as this test will look for changes in genes that cause Isovaleric Acidemia. Apart from this, special tests are conducted on blood, urine, and skin samples to confirm the diagnosis of Isovaleric Acidemia.

What Are The Treatments For Isovaleric Acidemia?

If Isovaleric Acidemia is suspected then immediate treatment is imperative in order to prevent further complications of the disease. Treatment for Isovaleric Acidemia is generally required throughout the life.

Treatments Recommended For Isovaleric Acidemia Include:

Diet For Isovaleric Acidemia: The affected children are required to consume specially formulated diet which is low in leucine. The dietician will formulate a detailed food chart in which foods with adequate amounts of protein, nutrients and other energy producing foods will be listed. Some of the foods which an affected child needs to avoid are:

  • Milk/Dairy products
  • Meat
  • Eggs
  • Fish
  • Legumes
  • Nuts
  • Peanut butter.

Majority of the vegetables and fruits can be eaten but in measured amounts. Apart from the food listed by the dietician, there are other formula foods available which are low on protein but still are balanced like low-protein flours and rice which are made especially for individuals with organic acid disorders.

Medications For Isovaleric Acidemia: Glycine is a type of amino acid which eliminates Isovaleric Acid from the body and hence a glycine supplement is given to children affected with Isovaleric Acidemia. Apart from these supplements, some children are also given L-carnitine which has also shown positive results in Isovaleric Acidemia. These medications need to be prescribed by the doctor.

In case there is a metabolic crisis, then treatment is required immediately and the child may be treated with bicarbonates, glucose, and other medications administered intravenously in a hospital setting in order to decrease the acid levels in the blood.

Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 26, 2018

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