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Abetalipoproteinemia

Abstract

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NORD is very grateful to M. Mahmood Hussain, MD, Professor, Department of Cell Biology and Pediatrics, SUNY Downstate Medical Center, for assistance in the preparation of this report.

Synonyms of Abetalipoproteinemia

  • ABL
  • Bassen-Kornzweig syndrome
  • low density B-lipoprotein deficiency
  • microsomal triglyceride transfer protein deficiency
  • MTP deficiency

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Abetalipoproteinemia is a rare inherited disorder of/affecting fat metabolism. Abnormalities in fat metabolism result in malabsorption of dietary fat and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities including a condition in which the red blood cells are malformed (acanthocytosis) resulting in low levels of circulating red blood cells (anemia). Affected individuals may also develop degeneration of the retina of the eyes potentially resulting in loss of vision, a condition known as retinitis pigmentosa. Abetalipoproteinemia is inherited as an autosomal recessive trait and is caused by mutations in the microsomal triglyceride transfer protein (MTTP) gene.

Introduction
Abetalipoproteinemia was first reported in the medical literature by doctors Bassen and Kornzweig in 1950 and is also known as Bassen-Kornzweig syndrome. The disorder is sometimes classified as a neuroacanthocytosis syndrome, which refers to a group of disorders characterized by acanthocytosis and neurological disorders, especially movement disorders.

Abetalipoproteinemia Resources

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.

Organizations:

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