Encyclopedia of Molecular Mechanisms of Disease

2009 Edition
| Editors: Florian Lang

Bassen-Kornzweig Syndrome

  • Alfried Kohlschütter
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-29676-8_8

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

  1. 1.
    Di Leo E et al. (2005) Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia. Atherosclerosis 180:311–318PubMedGoogle Scholar
  2. 2.
    Hooper AJ et al. (2005) Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism. Crit Rev Clin Lab Sci 42:515–545PubMedGoogle Scholar
  3. 3.
    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 2717–2752Google Scholar
  4. 4.
    Kohlschütter A (1999) Abetalipoproteinemia. In: Klockgether T (ed) Neurological ataxia. Marcel Dekker, New York, pp 205–221Google Scholar

Copyright information

© Springer-Verlag GmbH Berlin Heidelberg 2009

Authors and Affiliations

  • Alfried Kohlschütter
    • 1
  1. 1.Department of PediatricsUniversity Medical CenterHamburgGermany