Familial plasma lecithin: cholesterol acyltransferase deficiency.
A WOMAN WITH FAMILIAL PLASMA LECITHIN: cholesterol acyltransferase (L.C.A.T.) deficiency showed, like the other reported cases, obvious corneal opacity, proteinuria, and moderate anaemia with a slight haemolytic component. In the plasma the concentrations of free cholesterol, triglycerides, and lecithin were high, and those of esterified cholesterol, lysolecithin, and alphalipoprotein were low. L.C.A.T. activity in plasma was 10% of normal. The heparin-induced lipolytic activity in plasma was reduced. The erythrocyte lipid pattern was abnormal and showed the same pattern as earlier described in L.C.A.T. deficiency.The patient's brother also probably suffered from the disease and died in uraemia. These are the fourth and fifth known patients with L.C.A.T. deficiency, the first one reported in a male, and the first one with a fatal outcome.
D000217:Acyltransferases / Q000097:blood*; D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism*; D003318:Corneal Opacity / Q000209:etiology; D004912:Erythrocytes / Q000032:analysis; D005260:Female; D006493:Heparin / Q000494:pharmacology; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D008055:Lipids / Q000032:analysis; D008297:Male; D008875:Middle Aged; D010713:Phosphatidylcholines / Q000378:metabolism*; D011507:Proteinuria / Q000209:etiology; D014280:Triglycerides / Q000097:blood
D008055:Lipids; D010713:Phosphatidylcholines; D014280:Triglycerides; D006493:Heparin; D002784:Cholesterol; D000217:Acyltransferases