About abetalipoproteinemia

What is abetalipoproteinemia?

A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body.

What are the symptoms for abetalipoproteinemia?

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.

Abnormalities of the nervous system, acanthocytosis, fat malabsorption, steatorrhea, abnormality of retinal pigmentation, anemia, areflexia, chronic diarrhea, color vision defect, Failure to thrive, myalgia, nyctalopia, progressive visual loss, reticulocutosis

What are the causes for abetalipoproteinemia?

Abetalipoproteinemia is caused by mutations in the MTTP gene, which provides instructions for making a protein called microsomal triglyceride transfer protein. This protein is essential for creating molecules called beta-lipoproteins in the liver and intestine. Beta-lipoproteins transport fats, cholesterol, and fat-soluble vitamins from the intestine to the bloodstream so these nutrients can be taken up by tissues throughout the body. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth, development, and maintenance of the body's cells and tissues.

Most MTTP gene mutations lead to the production of microsomal triglyceride transfer protein with reduced or absent function and unable to help in the formation of beta-lipoproteins. A lack of beta-lipoproteins causes severely reduced absorption (malabsorption) of dietary fats and fat-soluble vitamins from the digestive tract into the bloodstream. These nutritional deficiencies lead to health problems in people with abetalipoproteinemia.

What are the treatments for abetalipoproteinemia?

The list of treatments mentioned in various sources for Abetalipoproteinemia includes the following list. Always seek professional medical advice about any treatment or change in treatment plans.

  • Vitamin A + Vitamin E
  • Vitamin E - possibly used for treatment of related Vitamin E deficiency
  • Dietary restriction of triglycerides
  • Supplementation with medium-chain triglycerides
  • Supplementation of lipid-soluble vitamins A, D, E, and K in high doses
  • Vitamin A
  • Aquasol A
  • Palmitate-a 5000
  • Ergocalciferol
  • Drisdol
  • Vitamin E
  • Nutr-E-Sol
  • Phytonadione
  • Mephyton
  • Folic acid

What are the risk factors for abetalipoproteinemia?

The exact prevalence and incidence of abetalipoproteinemia is unknown, but it is estimated to affect less than 1 in 1,000,000 people in the general population. Abetalipoproteinemia affects both males and females. There are no known racial or ethnic preferences for the disorder. Abetalipoproteinemia is more prevalent in populations with a high incidence of consanguineous marriages. Symptoms usually become apparent during infancy.

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