Abetalipoproteinemia Genetics WisdomCard

Our Guides and Physician Review team have organized the Top 10 Health Resources on Abetalipoproteinemia Genetics and compiled helpful research notes below.


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Research Notes on Abetalipoproteinemia Genetics


Abetalipoproteinemia has been linked to a mutation in the microsomal triglyceride transfer protein (MTTP) gene. This gene is responsible for creating beta-lipoproteins necessary for absorption of fats, cholesterol, and fat soluble vitamins.1. Abetalipoproteinemia is an autosomal recessive condition. Diagnostic and carrier testing may be performed to rule out the disorder prior to having a child.2

Fast Facts:

  • Parents who carry the mutated gene have a 25% chance of passing the condition on to their offspring.2
  • Failure to thrive, inability to maintain body cells and tissues, and eye problems are associated with this rare genetic disorder.3
  • Dieting, vitamin supplementation, physical therapy, and occupational therapy are treatment options for this condition.4

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Research Notes References

  1. Genetics Home Reference: What Genes Are Related to Abetalipoproteinemia?
  2. 2.0 2.1 AccessDNA: About Abetalipoproteinemia: Genetics & Inheritance
  3. National Organization for Rare Disorders (NORD): Abetalipoproteinemia
  4. Wikipedia: Abetalipoproteinemia: Genetics

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