It is characterized by the accumulation of neutral lipids, particularly cholesterol esters in leukocytes, fibroblasts, and hepatocytes. The lysomal acid lipase deficiency causes a buildup of lipids fats in body organs and calcium deposits in the adrenal glands. It is the most severe type of lysosomal acid lipase. If you have problems viewing pdf files, download the latest version of adobe reader. All structured data from the file and property namespaces is available under the creative commons cc0 license. Mara paz meneses stephanie machado gerardo porcell richard merino yhara gonzlez. The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase sterol esterase. Wolman disease xanthomatosis, familial xanthomatosis, wolmans liposomal acid lipase deficiency, wolman type wolmans disease disease, wolman.
The clinical features of wolman disease include early onset of vomiting, diarrhea, failure to thrive. Metabolic and molecular bases of inherited disease ommbid. Wolman disease genetic and rare diseases information. Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the lipa gene. It is the most severe type of lysosomal acid lipase deficiency. Accutrend plus manual 93 memory after the usual display test has been performed when switching on the accutrend plus manual, the last stored measured value is displayed. The wolman diseasecholesteryl ester storage disease spectrum. Files are available under licenses specified on their description page.
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