Japanese family with a deficiency of lecithin:cholesterol acyltransferase (LCAT).
We present findings in the ninth known Japanese family with lecithin:cholesterol acyltransferase (LCAT) deficiency. A 54-year-old man (proband) and his 58-year-old brother presented with corneal opacity. Both subjects showed a marked decrease in serum high density lipoprotein (HDL)-cholesterol and in the cholesteryl ester ratio. Although apo A-I and A-II were low, apo E tended to be high. Serum LCAT activity and mass were not detectable. Urinary examination showed microhematuria or proteinuria. Renal function was normal and no anemia was demonstrated, but blood smears showed poikilocytosis with target cells. The serum LCAT activity of the proband's three sons, obligate heterozygotes of LCAT deficiency, was about one-half the normal level, and HDL-cholesterol and apo A-I levels were low normal.
Department of Geriatrics, Nagoya University School of Medicine.
M
M
Naito
E
E
Maeda
G
G
Yoshino
M
M
Kasuga
A
A
Iguchi
F
F
Kuzuya
D000328:Adult; D008076:Cholesterol, HDL / Q000097:blood; D003318:Corneal Opacity / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000453:epidemiology / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood
D008076:Cholesterol, HDL; D008074:Lipoproteins; D007862:Phosphatidylcholine-Sterol O-Acyltransferase