Acanthocytosis; Abetalipoprotinemia; Apolipoprotein B deficiency; Microsomal triglyceride transfer protein deficiency
Definition and Characteristics
Abetalipoproteinemia (MIM 20100) is an autosomal recessively inherited disorder of lipoprotein metabolism characterized by the virtual absence of VLDL and LDL from plasma and associated with clinical manifestations of fat malabsorption and a variety of progressive neurological symptoms including ataxia and retinitis pigmentosa. Biochemical abnormalities in the patient’s plasma lead to a “thorny” deformation of erythrocytes (acanthocytosis).
The neurological symptoms are directly related to a deficiency of alpha-tocopherol (vitamin E).
The disorder seems to be very rare. Most earlier reported patients were Jewish, but the disease was also reported in patients from African origin and from Japan.
Abetalipoproteinemia is caused by mutations (most of them private family mutations) in a gene on chromosome 4q22–24 coding...
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