Hepatosteatosis from Lysosomal Acid Lipase Deficiency
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...
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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 کاملLysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life an...
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ژورنال
عنوان ژورنال: Journal of Gastrointestinal Surgery
سال: 2018
ISSN: 1091-255X,1873-4626
DOI: 10.1007/s11605-018-3906-7