Cholesteryl Ester Storage Disease – A Rare Presentation
نویسندگان
چکیده
منابع مشابه
Prevalence of cholesteryl ester storage disease.
Cholesteryl ester storage disease (CESD) is an autosomal recessive chronic liver disease caused by lysosomal acid lipase (LAL) deficiency. The gene is located on chromosome 10q23.2-q23.3, and the enzyme is essential for triglycerides and cholesteryl ester hydrolysis in lysosomes. CESD is characterized by hypercholesterolemia, hypertriglyceridemia, HDL deficiency, and abnormal lipid deposition i...
متن کامل[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].
Wolman disease and cholesteryl ester storage disease (CESD) are caused by a deficiency of lysosomal acid lipase activity, resulting in massive accumulation of cholesteryl ester and triglycerides. Wolman disease occurs in infancy, with hepatosplenomegaly, steatorrhea and adrenal calcification. It is fatal before the age of 1 year. In CESD, hepatomegaly may be the only clinical abnormality, altho...
متن کاملEnzyme deficiency in cholesteryl ester storage idisease.
Cholesteryl ester storage disease has been shown to involve severe deficiency of acid cholesteryl ester hydrolase and triglyceride lipase activity in liver, spleen, and lymph node. The cholesteryl ester hydrolase was also deficient in aorta. Tissue storage of both cholesteryl esters and triglycerides is generalized. Both the lipid and enzymatic changes are very similar to those in Wolman's dise...
متن کاملTargeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidenc...
متن کاملWolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice.
Lysosomal acid lipase (LAL) is an essential enzyme that hydrolyzes triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. Genetic LAL mutations lead to Wolman disease (WD) and cholesteryl ester storage disease (CESD). An LAL-null (lal(-/-)) mouse model resembles human WD/CESD with storage of CEs and TGs in multiple organs. Human LAL (hLAL) was expressed in Nicotiana benthamiana using th...
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ژورنال
عنوان ژورنال: Journal of Medicine
سال: 2018
ISSN: 2075-5384,1997-9797
DOI: 10.3329/jom.v19i2.37235