scholarly journals Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease.

1975 ◽  
Vol 250 (21) ◽  
pp. 8487-8495 ◽  
Author(s):  
JL Goldstein ◽  
SE Dana ◽  
JR Faust ◽  
AL Beaudet ◽  
MS Brown
Keyword(s):  
Cholesteryl Ester ◽  
Storage Disease ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Low Density ◽  
Acid Lipase ◽  
Cultured Fibroblasts ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase

Cholesteryl Ester Storage Disease: Case Report during Childhood

1999 ◽  
Vol 2 (6) ◽  
pp. 574-576 ◽  
Author(s):  
Zuhal Akçören ◽  
Safiye Göğüş ◽  
Nurten Koçak ◽  
Figen Gürakan ◽  
Hasan Özen ◽  
...  
Keyword(s):  
Case Report ◽  
Liver Biopsy ◽  
Cholesteryl Ester ◽  
Lipase Activity ◽  
Storage Disease ◽  
Cholesteryl Esters ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Disease Case

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3½-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.

scholarly journals Lysosomal Acid Lipase Deficiency Impairs Regulation ofABCA1Gene and Formation of High Density Lipoproteins in Cholesteryl Ester Storage Disease

2011 ◽  
Vol 286 (35) ◽  
pp. 30624-30635 ◽  
Author(s):  
Kristin L. Bowden ◽  
Nicolas J. Bilbey ◽  
Leanne M. Bilawchuk ◽  
Emmanuel Boadu ◽  
Rohini Sidhu ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Storage Disease ◽  
High Density ◽  
High Density Lipoproteins ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

scholarly journals New lysosomal acid lipase gene mutants explain the phenotype ofWolman disease and cholesteryl ester storage disease

1998 ◽  
Vol 39 (7) ◽  
pp. 1382-1388 ◽  
Author(s):  
Franco Pagani ◽  
Rajalakshmi Pariyarath ◽  
Rodolfo Garcia ◽  
Cristiana Stuani ◽  
Alberto B. Burlina ◽  
...  
Keyword(s):  
Cholesteryl Ester ◽  
Storage Disease ◽  
Acid Lipase ◽  
Lipase Gene ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase

Increased hepatic secretion of very-low-density lipoprotein apolipoprotein B-100 in cholesteryl ester storage disease

1995 ◽  
Vol 41 (1) ◽  
pp. 111-114 ◽  
Author(s):  
M H Cummings ◽  
G F Watts
Keyword(s):  
Cholesteryl Ester ◽  
Apolipoprotein B ◽  
Storage Disease ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Mevalonic Acid ◽  
Secretion Rate ◽  
Gas Chromatography Mass Spectrometry ◽  
Very Low Density Lipoprotein ◽  
Low Density

Abstract Using a stable isotope method, we measured the hepatic secretion rate of very-low-density lipoprotein apolipoprotein B-100 (VLDL apoB) in a 26-year-old women who had dyslipidemia due to cholesteryl ester storage disease (CESD) and in five normolipidemic subjects. [1-13C]Leucine was administered by a primed constant intravenous infusion and the enrichment of VLDL apoB was determined by gas chromatography-mass spectrometry. The absolute secretion rate (ASR) of VLDL apoB in the patient was more than twice the mean ASR of the normolipidemic group (17.1 vs 8.0 +/- 0.8 mg/kg body wt. per day). The plasma mevalonic acid concentration, a measure of intrahepatic cholesterol synthesis, was also greater in the patient than in the normolipidemic subjects (8.3 vs 4.4 +/- 1.8 micrograms/L). The findings are consistent with the hypothesis that in CESD increased intrahepatic synthesis of cholesterol stimulates hepatic secretion of VLDL apoB and this may partly account for the dyslipidemia.

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