1993 Volume 7 Issue 5 Pages 495-500
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.
