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Genetic and Rare Diseases Information Center (GARD)

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Wolman disease


Other Names for this Disease
  • Acid cholesteryl ester hydrolase deficiency, type 2
  • Acid cholesteryl ester hydrolase deficiency, Wolman type
  • Acid lipase disease
  • CESD
  • Cholesterol ester hydrolase deficiency
More Names
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Overview


Wolman disease is a type of lysosomal storage disorder. It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food.[1] The condition is severe and life-threatening, however new therapies, such as hematopoietic cell transplantation, have shown promise in improving the outlook of children with this disease.[2]
Last updated: 10/1/2008

References

  1. Wolman disease. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=wolmandisease. Accessed 10/1/2008.
  2. Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant. 2008 Sep 8;
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wolman disease. Click on the link to view a sample search on this topic.

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