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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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Symptoms


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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
  1. Abetalipoproteinemia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition=abetalipoproteinemia. Accessed 3/26/2012.