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.

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 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

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

Identification of rare diseases by screening a population selected on the basis of routine pathology results—the PATHFINDER project: lysosomal acid lipase/cholesteryl ester storage disease substudy

2018 ◽  
Vol 71 (7) ◽  
pp. 608-613 ◽  
Author(s):  
Timothy M Reynolds ◽  
Clare Mewies ◽  
John Hamilton ◽  
Anthony S Wierzbicki
Keyword(s):  
Density Lipoprotein ◽  
Autosomal Recessive Disorder ◽  
Time Interval ◽  
Acid Lipase ◽  
Exon 2 ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Targeted Testing ◽  
Causes Of Disease ◽  
Liver Biopsies

AimsLysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. This study attempted to identify the prevalence of LALD from patients with abnormal results in laboratory databases.MethodsElectronic laboratory databases were interrogated to identify from clinical biochemistry records patients with a phenotype of low high-density lipoprotein-cholesterol (≤0.85 mmol/L; 33 mg/dL) and with elevated alanine or aspartate transaminases (≥60 IU/L) on one occasion or more over a 3-year time interval. Patients were recalled, and a dried blood spot sample was collected for lysosomal acid lipase determination by a fluorimetric enzyme assay. Histopathology databases of liver biopsies were interrogated for patients with features of ‘microvesicular cirrhosis’ or ‘cryptogenic cirrhosis’ in the report. Histological blocks were sampled, and samples were analysed by next-generation sequencing for the presence of mutations in the LAL gene.ResultsSamples were obtained from 1825 patients with dyslipidaemia and elevated transaminases. No cases of LALD were identified. Liver biopsies were obtained from six patients. DNA extraction was successful from four patients. Two patients were homozygous for the LAL c.46A>C;p.Thr16Pro unclassified variant in exon 2.ConclusionsPathology databases hold routine information that can be used to identify patients with specific patterns of results or those who had biopsies to allow targeted testing for possible causes of disease. Biochemical screening suggests that the gene frequency of LAL deficiency in adults is less than 1 in 100.

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