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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
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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]
References
- Wolman disease. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=wolmandisease. Accessed October 1, 2008.
- 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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Wolman disease have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- The Cincinnati Children's Hospital has an information page on Wolman disease. Click on Cincinnati Children's Hospital to view the information page.
- Genetics Home Reference (GHR) contains information on Wolman disease. Click on the link to go to GHR and review the information.
- Madisons Foundation has an information page on Wolman disease.
- 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 National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Wolman disease. Click on the link to go to OMIM and review these resources.
- The University of Kansas Medical Center Web site lists resources for people with limb defects and their families. Click on the link above to view this list.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.