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Diseases

Genetic and Rare Diseases Information Center (GARD)

Abetalipoproteinemia


Other Names for this Disease
  • Bassen Kornzweig syndrome
  • Microsomal triglyceride transfer protein deficiency disease
  • Microsomal triglyceride transfer protein deficiency
  • ABL
  • Abetalipoproteinemia neuropathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 condition characterized by the inability 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 thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features develop later in childhood and often impair the function of the nervous system, potentially causing slower intellectual development; poor muscle coordination; progressive ataxia; and an eye disorder called retinitis pigmentosa.[1][2] Most of the symptoms are due to defects in the absorption and transport of vitamin E.[2] Abetalipoproteinemia is caused by mutations in the MTTP gene and is inherited in an autosomal recessive manner.[3] Early diagnosis, high-dose vitamin E therapy, and medium-chain fatty acid supplements may slow the progression of the nervous system abnormalities. Long-term outlook is reasonably good for most affected people who are diagnosed early. If left untreated, the condition can result in early death.[2]
Last updated: 3/22/2016

What are the signs and symptoms of abetalipoproteinemia?

The signs and symptoms of abetalipoproteinemia usually appear in the first few months of life. They can include:
  • failure to thrive in infancy
  • digestive symptoms such as diarrhea and steatorrhea (foul-smelling stools)
  • abnormal, star-shaped red blood cells (acanthocytosis)
  • nervous system (neurologic) symptoms beginning in childhood such as slower intellectual development; peripheral neuropathy; poor muscle coordination; ataxia; and intention tremors
  • eye (ophthalmologic) symptoms such as decreased night and color vision; retinitis pigmentosa in adolescence; and gradual deterioration of vision, often leading to blindness in the fourth decade of life[1][2]
Last updated: 3/22/2016

References
Other Names for this Disease
  • Bassen Kornzweig syndrome
  • Microsomal triglyceride transfer protein deficiency disease
  • Microsomal triglyceride transfer protein deficiency
  • ABL
  • Abetalipoproteinemia neuropathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.