title: Familial lecithin:cholesterol acyltransferase deficiency. Report of a fourth family from northwestern Norway.
abstract: 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.
mesh_terms: 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
chemical_list: D006242:Haptoglobins; D008077:Lipoproteins, LDL; D007862:Phosphatidylcholine-Sterol O-Acyltransferase