scholarly journals Lysosomal Acid Lipase (Acid Cholesterol Ester Hydrolase)

1996 ◽  
Vol 23 (9) ◽  
pp. 479-483
Author(s):  
Tsuneo IMANAKA
Keyword(s):  
Cholesterol Ester ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Cholesterol Ester Hydrolase ◽  
Ester Hydrolase ◽  
Lysosomal Acid Lipase

Proposed Treatment for Infants With Wolman Disease

PEDIATRICS ◽  
1989 ◽  
Vol 83 (6) ◽  
pp. 1074-1075
Author(s):  
MOSHE WOLMAN
Keyword(s):  
Lysosomal Enzyme ◽  
Cholesterol Ester ◽  
Reticuloendothelial System ◽  
Cholesterol Esters ◽  
Enzyme Molecule ◽  
Acid Lipase ◽  
Wolman Disease ◽  
Cholesterol Ester Hydrolase ◽  
Ester Hydrolase ◽  
Available Information

Presently available information indicates that Wolman disease is due to a defect in a single lysosomal enzyme molecule, called acid lipase, esterase, or cholesterol ester hydrolase (EC3.1.1.13). Cells of the reticuloendothelial system, hepatocytes, adrenocortical, and presumably many other cells normally, contain a neutral esterase associated with their microsomes, which is not deficient in Wolman disease. Theoretically, catabolism of intracellular hydrophobic cholesterol (esters and triglycerides) should proceed normally in Wolman disease cells whenever the metabolic chain does not depend on lysosomal hydrolysis.

scholarly journals Lysosomal acid lipase promotes cholesterol ester metabolism and drives clear cell renal cell carcinoma progression

2018 ◽  
Vol 51 (4) ◽  
pp. e12452 ◽  
Author(s):  
Jun Wang ◽  
Mingyue Tan ◽  
Jifu Ge ◽  
Ping Zhang ◽  
Jie Zhong ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Cholesterol Ester ◽  
Clear Cell ◽  
Acid Lipase ◽  
Cell Renal Cell Carcinoma ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase

Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene

2013 ◽  
Vol 43 (12) ◽  
pp. 1361-1367 ◽  
Author(s):  
Seiichiro Kojima ◽  
Norihito Watanabe ◽  
Shinji Takashimizu ◽  
Tatehiro Kagawa ◽  
Koichi Shiraishi ◽  
...  
Keyword(s):  
Liver Cirrhosis ◽  
Cholesterol Ester ◽  
Storage Disease ◽  
Novel Mutation ◽  
Acid Lipase ◽  
Lipase Gene ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase

scholarly journals A Novel Variant of Lysosomal Acid Lipase (Leu 336 →Pro) Associated With Acid Lipase Deficiency and Cholesterol Ester Storage Disease

1995 ◽  
Vol 15 (6) ◽  
pp. 773-778 ◽  
Author(s):  
Udo Seedorf ◽  
Heiko Wiebusch ◽  
Sandro Muntoni ◽  
Niels C. Christensen ◽  
Flemming Skovby ◽  
...  
Keyword(s):  
Cholesterol Ester ◽  
Storage Disease ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Novel Variant

scholarly journals Novel Mutation in a Patient with Cholesterol Ester Storage Disease

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Patrick Lin ◽  
Sheela Raikar ◽  
Jennifer Jimenez ◽  
Katrina Conard ◽  
Katryn N. Furuya
Keyword(s):  
Cholesterol Ester ◽  
Storage Disease ◽  
Novel Mutation ◽  
Density Lipoprotein ◽  
Acid Lipase ◽  
Lipase Gene ◽  
Exon 2 ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Multiple Organs

Cholesterol ester storage disease (CESD) is a chronic liver disease that typically presents with hepatomegaly. It is characterized by hypercholesterolemia, hypertriglyceridemia, high-density lipoprotein deficiency, and abnormal lipid deposition within multiple organs. It is an autosomal recessive disease that is due to a deficiency in lysosomal acid lipase (LAL) activity, which is coded by the lysosomal acid lipase gene (LIPA). We describe the case of a 5-year-old south Asian female incidentally found to have hepatomegaly, and subsequent workup confirmed the diagnosis of CESD. DNA sequencing confirmed the presence of a novel hepatic mutation. It is a four-nucleotide deletion c.57_60delTGAG in exon 2 of the LIPA gene. This mutation is predicted to result in a premature translation stop downstream of the deletion (p.E20fs) and, therefore, is felt to be a disease-causing mutation.

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