Abetalipoproteinemia: Causes, Symptoms, Treatment, Diagnosis

What is Abetalipoproteinemia?

Abetalipoproteinemia or ABL is a medical condition that obstructs the body from absorbing some dietary fats completely. If it is left untreated, it causes vitamin deficiency that can affect your health. Vitamins and dietary fats play an important role in the growth and development of organs and tissues of the body, inclusive of the brain. Abetalipoproteinemia is also known as acanthocytosis and apolipoprotein. This is an inherited condition and is not contagious. Both male and female can get this disorder. There is no geographical, racial, or ethnic preference.

What is Abetalipoproteinemia?

Symptoms of Abetalipoproteinemia

As per the National Organization for Rare Disorders (NORD), the symptoms of abetalipoproteinemia affect the eyes, nervous system, blood and gastrointestinal tract. The specific symptoms of abetalipoproteinemia are:

  • Abnormal curvature of spine
  • Infants show abnormal growth patterns like delays in developmental milestones
  • Muscle weakness
  • Vision problems
  • Protruding abdomen
  • Speech disorders
  • Speech slurring
  • Balance and dexterity problems
  • Fatty, foul-smelling or irregular stools.

Causes of Abetalipoproteinemia

Abetalipoproteinemia is a gene related problem. This gene is responsible to combine fat with protein to make lipoprotein. If the gene does not work properly, the body faces difficulty to digest some kinds of fats and vitamins. The defective gene is inherited from the parents. This medical disorder is rare and so far only 100 cases have been reported worldwide.

Diagnosis of Abetalipoproteinemia

Different types of tests are done to diagnose abetalipoproteinemia:

Metabolic Blood Test to Diagnose Abetalipoproteinemia:

Deficiency test for Vitamin A, D, E & K are common. Doctors may even test apolipoprotein B levels and may also do a complete blood count or a cholesterol study.

Genetic Blood Tests for Abetalipoproteinemia:

If there is a family history of abetalipoproteinemia, doctors may examine to observe any mutations in MTP gene. This, gene is responsible to cause abetalipoproteinemia.

Other Diagnostic Tests for Diagnosing Abetalipoproteinemia:

Apart from the blood test, certain other tests are performed by doctors such as eye examination, stool test, and electromyography.

To diagnose abetalipoproteinemia, a patient may require making several visits to a doctor. Sometimes it may be difficult to assess whether the symptoms are because of abetalipoproteinemia or any other condition.

Treatment of Abetalipoproteinemia

The common treatment for abetalipoproteinemia is fat-soluble vitamins of high dosages. Other supplements include linoleic acid, and omega-6 fatty acids are also given. Doctors may recommend consulting a nutritionist to lower fat intake as diet play an important role in treating abetalipoproteinemia. Specific diet for abetalipoproteinemia has been developed. Avoid eating certain fats and add doses of vitamin supplements such as Vitamin A, E and K and also iron. Investigative treatment may also be made available for patients with abetalipoproteinemia.

Prevention of Abetalipoproteinemia

At present, no specific methods or guidelines are available to prevent abetalipoproteinemia. Genetic testing of the parents-to-be and the related family members and the prenatal diagnosis (testing of the fetus during pregnancy) can help to understand the risks in a better way. In case of a family history of abetalipoproteinemia, genetic counseling can help to assess risks before family planning. Research is performed to explore the treatment methods and for the prevention of inherited as well as acquired genetic disorders.


Abetalipoproteinemia is a rare disorder that affects the fat metabolism. If there is an abnormality in the fat metabolism, it results in improper absorption of fats and essential vitamins. People affected with abetalipoproteinemia experience muscle weakness, difficulty in walking, neurological deterioration, loss of vision and blood abnormalities. The exact reason for the occurrence of abetalipoproteinemia is not known, but it affects less than 1 person in 1,000,000 populations. The disease occurs more in those who have more consanguineous marriages. The symptoms of abetalipoproteinemia are apparent in infancy. Treatment for this disorder is available and doctors can help to regain vision, mental clarity, and muscle function.

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:February 26, 2019

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