Familial Lecithin:Cholesterol Acyltransferase(LCAT) deficiency with Impaired Glucose Tolerance.

Accession number;99A0455005
Title;Familial Lecithin:Cholesterol Acyltransferase(LCAT) deficiency with Impaired Glucose Tolerance.
Author; HOSOOKA TETSUYA (Kobe Rosai Hosp.) YASO SHINJI (Kobe Rosai Hosp.) MAEDA EIICHI (Kobe Univ., Sch. of Med.) KASUGA MASATO (Kobe Univ., Sch. of Med.)
Journal Title;Journal of the Japan Diabetic Society
Journal Code:Z0279B
ISSN:0021-437X
VOL.42;NO.2;PAGE.157-161(1999)
Figure&Table&Reference;FIG.2, TBL.3, REF.19
Pub. Country;Japan
Language;Japanese
Abstract;A 39-year-old man was referred to our hospital because of hyperglycemia. Laboratory examination revealed an FPG level of 195mg/dl and an OGTT of 75g suggestive of diabetes mellitus pattern, however, his HbA1c level was markedly low (4.7%). He Presented with corneal opacity, and showed a marked decrease of high density lipoprotein-cholesterol level (9mg/dl) and serum lecithin:cholesterol acyltransferase(LCAT) activity (5% of normal control). His mother and uncle had similar clinical findings. We made a diagnosis of familial LCAT deficiency with non-insulin-dependent diabetes mellitus. Lipid analysis of erythrocyte membrane composition showed markedly increased levels of free cholesterol and phospholipid, and abnormal erythrocytes such as stomatocytes were seen in his blood smear. These results suggest that the decrease in the HbA1c level was caused by the shortened erythrocyte survival time, and resulted from the LCAT deficiency. (author abst.)