[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, although lipid deposition is widespread. Lysosomal acid lipase hydrolyzes both triaclyglycerols and cholesteryl esters, and the enzyme plays an important role in the cellular processing of plasma lipoproteins, and contributes to homeostatic control of lipoprotein levels in blood and prevention of cellular lipid overloading. The gene encoding lysosomal acid lipase was cloned and characterized in 1994, and two mutations of acid lipase gene were found in a patient with Wolman disease, as a compound heterozygote. It is suggested that structural gene defects are also present in CESD cells. However, the reason (s) for the clinical difference between Wolman disease and CESD remain (s) to be studied.
Tanaka
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Department of Pediatrics, Osaka City University School of Medicine.
D015217:Cholesterol Ester Storage Disease / Q000209:etiology / Q000503:physiopathology; D002788:Cholesterol Esters / Q000378:metabolism; D006801:Humans; D007223:Infant; D008049:Lipase / Q000172:deficiency* / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology; D009154:Mutation; D014280:Triglycerides / Q000378:metabolism; D015223:Wolman Disease / Q000209:etiology
D002788:Cholesterol Esters; D014280:Triglycerides; D008049:Lipase