Erythrocyte abnormalities in a hypoalphalipoproteinemia syndrome resembling fish eye disease.
Erythrocyte membrane (EM) abnormalities in a 16-yr-old boy with hypoalphalipoproteinemia resembling fish eye disease (FED-LS) were investigated. The proband's erythrocytes had markedly decreased osmotic fragility with target cells observed in the peripheral film. Analysis of his EM lipids revealed normal cholesterol and phospholipid content but a marked increase in phosphatidylcholine with concomitant decreases in phosphatidylethanolamine and sphingomyelin. Of the EM enzymes examined, acetylcholinesterase and superoxide dismutase activities were decreased while those of Na+-K+ ATPase, catalase and glutathione reductase were normal. 51Cr erythrocyte survival in the patient was slightly decreased. The observed changes in a number of structural and functional properties of erythrocytes in this disorder are indistinguishable from those previously described in homozygotes for familial lecithin:cholesterol acyltransferase (LCAT) deficiency. Thus, it is possible that in both of these disorders an abnormality of plasma LCAT activity causes, either directly or indirectly, functional and structural changes in the erythrocyte membrane.
Godin
D V
DV
Department of Pharmacology, University of British Columbia, Vancouver, Canada.
Garnett
M E
ME
Hoag
G
G
Wadsworth
L D
LD
Frohlich
J
J
D000293:Adolescent; D003318:Corneal Opacity / Q000097:blood*; D004905:Erythrocyte Aging; D004910:Erythrocyte Membrane / Q000201:enzymology / Q000473:pathology; D004913:Erythrocytes, Abnormal / Q000473:pathology*; D005260:Female; D006242:Haptoglobins / Q000032:analysis; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood*; D008075:Lipoproteins, HDL / Q000097:blood*; D008297:Male
D006242:Haptoglobins; D008075:Lipoproteins, HDL