Synonyms
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).
Prevalence
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.
Genes
Abetalipoproteinemia is caused by mutations (most of them private family mutations) in a gene on chromosome 4q22–24 coding...
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References
Di Leo E et al. (2005) Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 180:311–318
Hooper AJ et al. (2005) Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci 42:515–545
Kane JP et al. (2005) Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriver C et al. (eds) Metabolic and molecular bases of inherited disease. McGraw-Hill, New York, pp 2717–2752
Kohlschütter A (1999) Abetalipoproteinemia. In: Klockgether T (ed) Neurological ataxia. Marcel Dekker, New York, pp 205–221
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Kohlschütter, A. (2009). Bassen-Kornzweig Syndrome. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_8
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DOI: https://doi.org/10.1007/978-3-540-29676-8_8
Publisher Name: Springer, Berlin, Heidelberg
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