<p>Lysosomal Acid Lipase Deficiency: Therapeutic Options</p>
نویسندگان
چکیده
منابع مشابه
Clinical Features of Lysosomal Acid Lipase Deficiency
OBJECTIVE The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. METHODS Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset. RESULTS A total of 49 patients ...
متن کاملMexican consensus on lysosomal acid lipase deficiency diagnosis.
INTRODUCTION Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed. It is indispensable to recognize the deficiency, which can present in patients at any age, so that specific treatment can b...
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 کاملLysosomal acid lipase deficiency in rats: lipid analyses and lipase activities in liver and spleen.
We report the biological characterization of an animal model of a genetic lipid storage disease analogous to human Wolman's disease. Affected rats accumulated cholesteryl esters (13.3-fold), free cholesterol (2.8-fold), and triglycerides (5.4-fold) in the liver, as well as cholesteryl esters (2.5-fold) and free cholesterol (1.33-fold) in the spleen. Triglycerides did not accumulate, and the lev...
متن کاملCongenital Pancreatic Lipase Deficiency.
The purpose of this communication is to record two families, each consisting of two children. The four children have presented an identical clinical picture associated with a congenital severe reduction of pancreatic lipase, and have responded to persistent treatment with lipase given as pancreatin. A brief reference was made to Case 1 in the Charles West Lecture, delivered before the Royal Col...
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ژورنال
عنوان ژورنال: Drug Design, Development and Therapy
سال: 2020
ISSN: 1177-8881
DOI: 10.2147/dddt.s149264