Abetalipoproteinemia

Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such ...1

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Symptoms of Abetalipoproteinemia

Symptoms: The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include:

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Causes of Abetalipoproteinemia

Cause: Abetalipoproteinemia is caused by changes (mutations) in the MTTP gene. The MTTP gene gives the body instructions to make a protein needed for creating beta-lipoproteins. These lipoproteins are necessary for the body to absorb fats, cholesterol, and fat ...2

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Causes List for Abetalipoproteinemia

Some possible causes of Abetalipoproteinemia or similar disorders may include:3

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Types of Abetalipoproteinemia

Some types of this condition may include:4 Types of abetalipoproteinemia:

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Diagnosis of Abetalipoproteinemia

Diagnosis: Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for abetalipoproteinemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact ...5

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Genetics of Abetalipoproteinemia

Genetic Changes: Mutations in the MTTP gene cause abetalipoproteinemia . The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are necessary for the absorption of fats, cholesterol ...6

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Treatments: Abetalipoproteinemia

Treatment: A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins ...7

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ abetalipoproteinemia
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5/ abetalipoproteinemia
  3. Source: Algorithmically Generated List
  4. Source: NCI Thesaurus
  5. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5/ abetalipoproteinemia
  6. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ abetalipoproteinemia
  7. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5/ abetalipoproteinemia

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.