Propionic Acidemia: Causes, Symptoms, Diagnosis, Treatment

What Is Propionic Acidemia?

Propionic Acidemia also called as PROP is an autosomal recessive trait in which the body is not able to break down certain fats and proteins. This is also considered as an organic acid disorder, as this condition causes abnormal acid build up in the blood or urine causing variety of complications. If Propionic Acidemia is left untreated, it can cause severe brain defects and sometimes even death, although if it is identified early and prompt treatment is initiated then a lot of the complications can be avoided.

What Is Propionic Acidemia?

What Are The Causes Of Propionic Acidemia?

As stated Propionic Acidemia is an autosomal recessive trait which means that the defective gene needs to be passed from both the parents. This disease is caused when the enzyme propionyl-CoA carboxylase does not function appropriately. The function of this enzyme is to break down the amino acids, isoleucine, valine, methionine, and threonine. In cases of Propionic Acidemia, these amino acids are not able to be broken and hence there is a build up of toxins in the blood causing health issues.

What Are The Symptoms of Propionic Acidemia?

Symptoms of Propionic Acidemia Include:

How Is Propionic Acidemia Diagnosed?

The frontline method of diagnosing Propionic Acidemia is genetic testing, which can track down the defective gene which causes Propionic Acidemia. Apart from this, tests on blood, urine or skin are also done to confirm Propionic Acidemia.

What Are The Treatments For Propionic Acidemia?

If Propionic Acidemia is suspected or diagnosed, the following treatment measures are recommended:

Diet For Propionic Acidemia:

The child should be given diet which is low on protein. This can be formulated by a dietician who will formulate a detailed food chart which will contain high carbohydrates as it helps prevent metabolic crisis. The child needs to avoid the following foods:

  • Milk
  • Meat
  • Eggs
  • Fish
  • Dried beans
  • Nuts.

Children with Propionic Acidemia need to take frequent meals and avoid staying hungry for long periods of time. This can be explained by the dietician as to how often to feed the child. Usually, the child needs to be fed every six hours.

Medications For Propionic Acidemia:

L-carnitine has shown to be beneficial in Propionic Acidemia as it facilitates removal of toxins from the blood and helps in providing energy to the body. Certain oral antibiotics are also helpful in reducing propionic acid build up in the intestines. Apart from medications supplement like Biotin is also very helpful for children with Propionic Acidemia.

Children with metabolic crises need to be treated immediately in an inpatient setting in which normally bicarbonates and glucose is given intravenously. A consult with the doctor is imperative before beginning any medication or supplement for a child affected with Propionic Acidemia.

Apart from all the supplements and medications, a child with Propionic Acidemia needs to be monitored closely for ketones in the urine through urinalysis as presence of ketones in the urine is the beginning stage of metabolic crisis. Blood tests are also required periodically to measure the levels of amino acid.

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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