Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

1995 ◽  
Vol 95 (5) ◽  
Author(s):  
Sandro Muntoni ◽  
Heiko Wiebusch ◽  
Harald Funke ◽  
Emilio Ros ◽  
Udo Seedorf ◽  
...  
Keyword(s):  
Cholesterol Ester ◽  
Storage Disease ◽  
Splice Junction ◽  
Acid Lipase ◽  
Gene Encoding ◽  
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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