Abeta and Hypobetalipoproteinemias

  • G. Gay
  • J. S. Delmotte


Abetalipoproteinemia (ABL) and hypobetal-ipoproteinemia (HBL) are a heterogeneous group of genetic disorders. They have in common low, indetectable levels of plasma Apo-B or Apo-B containing lipoproteins: chylomicrons, very low density lipoproteins (VLDL) and light density lipoproteins (LDL). In plasma they are characterized by undetectable or low plasma triglyceride and cholesterol.


Retinitis Pigmentosa Villous Atrophy Malabsorption Syndrome Histopathology Liver apoB Gene 
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Suggested reading

  1. Gay G, Pessah M, Bouma ME, Roche JF, Aymard JP, Beucler I, Aggerbeck LP, Infante R (1990) L’hypobetalipopro-teinémie familiale. Etude familiale de 4 cas. Rev Med Interne 11:273–279PubMedCrossRefGoogle Scholar
  2. Scoazec JG, Bouma ME, Roche JF, Blache D, Verthier N, Feldmann G, Gay G (1992) Liver fibrosis in a patient with familial homozygous hypobetaliproteinemia: possible role of vitamin supplementation. Gut 33:414–417PubMedCrossRefGoogle Scholar
  3. Wetterau JR, Aggerbeck LP, Bouma ME, Eisenberg C, Munck A, Hermier, Schmitz J, Gay G, Rader DJ, Gregg RE (1992) Absence of microcosmal tryglyceride transfer proteins in individuals with abetalipopro-teinemia. Science 258: 99–1001CrossRefGoogle Scholar

Copyright information

© Springer-Verlag Italia, Milano 1998

Authors and Affiliations

  • G. Gay
  • J. S. Delmotte

There are no affiliations available

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