Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway.
The tenth Norwegian patient with familial LCAT deficiency is reported. Her family lives in the same area as the three previously reported Norwegian families. The patient is a 26-year-old female with typical findings of the disease--proteinuria and corneal opacities. Total cholesterol was normal, but the main part was present in the free form. Triglycerides were slightly elevated. Kidney function was normal. A large molecular weight fraction of LDL was present in plasma.
D000328:Adult; D000740:Anemia / Q000235:genetics; D003318:Corneal Opacity / Q000235:genetics; D005260:Female; D006242:Haptoglobins / Q000235:genetics; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008077:Lipoproteins, LDL / Q000097:blood; D009664:Norway; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood; D011507:Proteinuria; D013577:Syndrome
D006242:Haptoglobins; D008077:Lipoproteins, LDL; D007862:Phosphatidylcholine-Sterol O-Acyltransferase