[Asymptomatic abetalipoproteinemia associated with partial apoprotein B deficiency: a familial case report].

Abstract

The authors report a case of familial asymptomatic abetalipoproteinemia. The propositus has total abetalipoproteinemia associated with a partial apoprotein B defect. His two daughters have a subtotal betalipoprotein deficiency. This familial case, with autosomal dominant transmission, seems different from other reports. It supports the hypothesis that the primary involvement is a deficiency in apoprotein B synthesis, which appears more closely correlated with clinical symptoms.

• Authors: F Bloch, F Drupt, L Mallet, F Potevin, M Leclerc, J P Petite
• Journal: Annales de medecine interne (Ann Med Interne (Paris)) Vol. 133 Issue 8 Pg. 590-3 ( 1982) ISSN: 0003-410X [Print] France
• Vernacular Title: Abêtalipoprotéinémie asymptomatique associée à un déficit partiel en apoprotéine B: une observation familiale.
• PMID: 7171188 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Apolipoproteins
• Apolipoproteins B
• Lipoproteins, LDL

Topics

• Abetalipoproteinemia (genetics)
• Adult
• Apolipoproteins (deficiency)
• Apolipoproteins B
• Child
• Electrophoresis
• Female
• Genes, Dominant
• Humans
• Lipoproteins, LDL (deficiency)
• Male