An introduction to abetalipoproteinemia

Abetalipoproteinemia is quite a big name and you almost bit your tongue when you tried pronouncing it.

It even has other more tongue-biting names – Bassen-Kornzweig syndrome, acanthocytosis, or apolipoprotein B deficiency. That was just for the laughs, anyway.

Alright, so what does the term Abetalipoproteinemia (ABL) entail? It is an abnormal health state that makes one’s body to be unable to completely absorb certain diets that are fatty in nature. It is a genetic disease caused by a bad gene. That means it will be inherited from an affected parent. If left unattended to, it can cause your body to be deficient in vitamins. The inability to absorb certain dietary fats will indirectly mean some vitamins will be lacking in the human body. And you know that will not be a good one for anyone’s health, I mean the affected person. There will virtually be hindered the growth of tissues and organs especially the brain, eyes, blood and the gastrointestinal system.

Let us take a look at some of its associated symptoms although variations exist.



Photo Credit: Genetics Home Reference – NIH


Symptoms of abetalipoproteinemia

  1. Slurring of speech
  2. Developmental milestone failures and sometimes delays to thrive in infants
  3. Abnormal spine curvature.
  4. Dexterity and balance abnormalities.
  5. Poor coordination in body movement.
  6. The weakness of the muscles.
  7. Bulging abdomen.
  8. Vision problems.
  9. Disorders of speech.
  10. Stool abnormalities i.e. stools becoming foul-smelling, irregular, fatty or frothy.


Causes of abetalipoproteinemia

It is a rare autosomal recessive disease inherited from two parents that are carriers. It means the two parents must carry the defective gene in them for a child to be affected. Only 100 cases have been reported worldwide.

The gene affected is that which is responsible for the production of lipoprotein. The name of the gene is the MTP gene.

ABL is the endpoint of disorders with a gene that instructs your body how to combine fat with protein to produce a lipoprotein. When the gene fails to function the way it should, it becomes more difficult for your body to metabolize certain types of fat and vitamins.


Abetalipoproteinemia diagnosis

You have to make several visits to the hospital for the sake of diagnosing ABL. And sometimes, it can be really difficult to know whether the symptoms are caused by ABL or by an entirely different condition. The following diagnostic tests have been useful in helping affected persons.

  1. Metabolic Blood Tests: Its aim is to detect changes in metabolism.
  2. Vitamins A, D, E and K deficiency test
  3. Apolipoprotein B test
  4. Complete blood count
  5. Cholesterol study
  6. Genetic blood tests
  7. Eye examination
  8. Stool sample test
  9. Electromyography


Abetalipoproteinemia treatments

  1. Vitamin therapy: a common way to treat ABL is the administration of a high dosage of vitamins A, D, E and K. They are lipid-soluble vitamins.
  2. Supplements support: I addition to treatment with vitamins A, D, E and K, supplements can also be added. A good example is an omega-6 fatty acid called linoleic acid.
  3. Diet: This is a vital part of ABL treatment.  Taking more skimmed milk, eating smaller dietary fat, low consumption of meat etc. are some of the ways to go about managing the condition.


Complications of abetalipoproteinemia

Several complications of the eyes, muscles and the brain exist. For instance, visual problems can be worsening to the point where it develops into blindness. Tremors and irregular movement patterns have also been indicated as the disease progresses. Certain people have also been reported to experience deterioration in their mental functions. Notwithstanding, their treatments exist and general health can be improved.


Prognosis for abetalipoproteinemia

The degree of the condition determines its associated complications. Reports have it that many people do well with treatment. Notwithstanding, nervous system and muscles abnormalities have been documented.


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