Abetalipoproteinemia (Bassen-Kornzweig syndrome) is a genetically determined metabolic disease in which the absorption of fats (and thus fat-soluble vitamins, i.e. A, D, E and K) is impaired, and thus - to their shortage. What are the causes and symptoms of Bassen-Kornzweig syndrome? What is the treatment?

Abetalipoproteinemia , otherwiseBassen-Kornzweig syndrome , acanthocytosis or apoloprotein B deficiency, is a genetically determinedmetabolic disease , in which the body does not produce certain lipoproteins - substances that are necessary for the body's absorption of fat, cholesterol and fat-soluble vitamins from the diet (and are responsible for the effective transport of these substances in the bloodstream). As a consequence, there is a reduced absorption of some fats and fat-soluble vitamins (vitamins A, D, E and K) from the gastrointestinal tract into the blood, and thus - a shortage of these substances in the body.

A person suffering from Bassen-Kornzweig syndrome is unable to produce a group of lipoproteins called beta-lipoproteins, which are responsible for the transport of cholesterol.

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Abetalipoproteinemia (Bassen-Kornzweig syndrome) - causes

The cause of the fat metabolism disorder is a mutation in the MTTP gene, which contains instructions on how to make the microsomal triglyceride transport protein (MTP), which is essential for the production of beta-lipoproteins.

The disease is inherited in an autosomal recessive manner, i.e. in order for a child to become ill, they must receive one copy of the defective gene from each parent.

Abetalipoproteinemia (Bassen-Kornzweig syndrome) - symptoms

Fats are essential for the proper growth and development, as well as the functioning of organs and systems, especially the nervous system and the organ of vision. Therefore, their shortage manifests itself:

  • abnormal growth in infants - developmental delay or weight gain lower than expected at a given age;
  • muscle weakness
  • ataxia, i.e. problems with coordination of movements and maintaining balance
  • degenerationretinitis pigmentosa and vision problems
  • oily, foul-smelling, frothy stools

In addition, there are symptoms of vitamin A, D, E and K deficiency. Anemia may also occur.

Important

Abetalipoproteinemia (Bassen-Kornzweig syndrome) - complications

The most serious complication of abetalipoproteinemia is vision problems. If left untreated, they can worsen and lead to blindness over time.

In addition, the disease causes muscle weakness and ataxia, which makes it difficult to walk and perform everyday activities.

Some people with Bassen-Kornzweig syndrome may also experience retardation in mental development (which may be manifested, for example, by speech disorders).

Abetalipoproteinemia (Bassen-Kornzweig syndrome) - diagnosis

Doctors order blood counts and cholesterol tests. In addition, you can measure the level of apolipoprotein B and vitamins A, D, E and K.

In blood tests, a distortion of erythrocytes ("spiny" cells, acanthocytosis) is characteristic, which leads to a reduction in the level of circulating red blood cells, and thus - anemia.

In addition, you may need:

  • electromyography - muscle activity test
  • eye tests
  • stool sample testing

Abetalipoproteinemia (Bassen-Kornzweig syndrome) - treatment

People with abetalipoproteinemia are given high doses of fat-soluble vitamins, especially vitamin E, which helps to produce lipoprotein. You can also use other supplements, including linolonic acid.

Category:

Genetic diseases