Enzyme deficiency in cholesteryl ester storage idisease.
نویسندگان
چکیده
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 disease.
منابع مشابه
[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 کاملTargeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage.
Lysosomal acid lipase (LAL) is essential for the hydrolysis of the triglycerides and cholesteryl esters in lysosomes. Its deficiency produces two phenotypes, a severe infantile-onset variant, Wolman disease (WD), and a later onset variant, cholesteryl ester storage disease (CESD). A mouse model with a LAL null mutation was produced by targeting disruption of the mouse gene. Homozygote knockout ...
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July 19, 2016 e17 CorrpondenCe To the Editor: I read with great interest the editorial1 regarding the prevalence of familial hypercholesterolemia (FH) in the United States and why the early recognition of this condition is so essential for the optimal management of individuals with the condition, in particular, because the PCSK9 monoclonal antibodies, alirocumab and evolocumab, were approved by...
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 کاملMolecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.
Human lysosomal acid lipase/cholesteryl ester hydrolase (hLAL) is essential for the intralysosomal metabolism of cholesteryl esters and triglycerides taken up by receptor-mediated endocytosis of lipoprotein particles. The key role of the enzyme in intracellular lipid homeostasis is illustrated by two lysosomal storage diseases inherited as autosomal recessive traits. Wolman disease, associated ...
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ورودعنوان ژورنال:
- The Journal of clinical investigation
دوره 51 7 شماره
صفحات -
تاریخ انتشار 1972