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Wolman Disease
Definition: The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

Synonym(s): Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type / Xanthomatosis, Familial / Xanthomatosis, Wolman's / Liposomal Acid Lipase Deficiency, Wolman Type / Wolman's Disease / Disease, Wolman / Disease, Wolman's / Familial Xanthomatoses / Familial Xanthomatosis / Wolman's Xanthomatosis / Wolmans Disease / Xanthomatoses, Familial / Xanthomatosis, Wolman / Xanthomatosis, Wolmans
MeSH 2010 © U.S. National Library of Medicine®.
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Broader term(s): - Lipidoses - Metabolism, Inborn Errors - Genetic Diseases, Inborn - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Cholesterol Ester Storage Disease 
                      Lipid Metabolism, Inborn Errors
                          Lipidoses
                              Cholesterol Ester Storage Disease 
                  Lipid Metabolism Disorders
                      Lipidoses
                          Cholesterol Ester Storage Disease 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Infant, Newborn, Diseases 
              Genetic Diseases, Inborn
                  Metabolism, Inborn Errors
                      Lysosomal Storage Diseases
                          Cholesterol Ester Storage Disease 
                      Lipid Metabolism, Inborn Errors
                          Lipidoses
                              Cholesterol Ester Storage Disease 

MeSH 2010 © U.S. National Library of Medicine®.

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