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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Abetalipoproteinemia


Other Names for this Disease
  • Abetalipoproteinemia neuropathy
  • ABL
  • Apolipoprotein B deficiency
  • Bassen Kornzweig syndrome
  • Betalipoprotein deficiency disease
More Names
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Your Question

My son has been diagnosed with this. He has failure to thrive. Are people with this disorder smaller and below their expected percentile?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is abetalipoproteinemia?

Abetalipoproteinemia is a disease in which a person is unable to fully absorb dietary fats, cholesterol and fat-soluble vitamins.[1] Signs and symptoms appear in the first few months of life and can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; acanthocytosis; and stool abnormalities. Other features of this disorder may develop later in childhood and often impair the function of the nervous system, potentially causing poor muscle coordination, ataxia, and an eye disorder called retinitis pigmentosa.[1] Abetalipoproteinemia is usually caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner.[2] Treatment may include dietary modification and various dietary supplements.[2][3]
Last updated: 3/26/2012

What are the signs and symptoms of abetalipoproteinemia?

The signs and symptoms of abetalipoproteinemia appear in the first few months of life. They can include failure to gain weight and grow at the expected rate (failure to thrive); diarrhea; abnormal star-shaped red blood cells (acanthocytosis); and fatty, abnormally foul-smelling stools (steatorrhea). Other features of this disorder may develop later in childhood and often impair the function of the nervous system, causing poor muscle coordination and difficulty with balance and movement (ataxia). Individuals may also develop an eye disorder called retinitis pigmentosa, which can cause vision loss.[1]
Last updated: 3/26/2012

References