Studies on Red Cell Membrane Abnormalities and Blood Findings of Abetalipoproteinemia.

DOI

Bibliographic Information

Other Title
  • 無βリポ蛋白血症の赤血球膜病態と血液所見

Search this article

Description

An 8-year-old patient was diagnosed as abetalipoproteinemia by confirming the Apo-B deficiency in the patient's serum, in which both apoprotein B-100 and B-48 were totally lacking. Marked decrement of plasma lipids and acanthocytosis (50%) were also observed. In red cell membrane lipids, phosphatidylcholine was decreased. Surprisingly, however, the total amounts of free cholesterol and total phospholipids in red cells were maintained almost normally, in spite of a marked depletion of plasma lipids. The calcium influx was markedly elevated with normal transport of sodium. Supplementary vitamin A, E, and K have been given for 8 years with minimal improvement.

Journal

Keywords

Details 詳細情報について

Report a problem

Back to top