Wolman’s disease

Known as acid lipase deficiency, is a severe lipid storage disorder that is usually fatal by age 1.

• This autosomal recessive disorder is marked by accumulation of cholesteryl esters (normally a transport form of cholesterol) and triglycerides (a chemical form in which fats exist in the body) that can build up significantly and cause damage in the cells and tissues.  Both males and females are affected by this disorder.
• Infants are normal and active at birth but quickly develop progressive mental deterioration, enlarged liver and grossly enlarged spleen, distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools),  jaundice, anaemia (low levels of blood), vomiting, and calcium deposits in the adrenal glands, causing them to harden.

National institute of Neurological disorders and Stroke

• If not otherwise specified, reference is: Marks, Dawn B.; Swanson, Todd; Sandra I Kim; Marc Glucksman (2007). Biochemistry and molecular biology. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. ISBN 0-7817-8624-X.
• Niemann-Pick disease from Genetics Home Reference. Reviewed: January 2008. Based on an incidence in a general population of 1 in 250,000 for types A and B and 1 in 150,000 for type C
• NINDS Niemann-Pick Disease Information Page at the National Institute of Neurological Disorders and Stroke. Last updated October 6, 2011
• Banikazemi M, Desnick RJ, Astrin KH (2009-07-08). “Fabry Disease”. eMedicine Pediatrics: Genetics and Metabolic Disease. Medscape. Retrieved 2010-12-31.
• Mehta, A.; Ricci, R.; Widmer, U.; Dehout, F.; Garcia De Lorenzo, A.; Kampmann, C.; Linhart, A.; Sunder-Plassmann, G.; Ries, M.; Beck, M. (2004). “Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey”. European Journal of Clinical Investigation. 34 (3): 236–242. PMID 15025684. doi:10.1111/j.1365-2362.2004.01309.x.
• Waldek, S.; Patel, M. R.; Banikazemi, M.; Lemay, R.; Lee, P. (2009). “Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry”. Genetics in Medicine. 11 (11): 790–796. PMID 19745746. doi:10.1097/GIM.0b013e3181bb05bb.
• “Krabbe disease”. Genetics Home Reference. United States National Library of Medicine. 2008-05-02. Retrieved 2008-05-07.
• Gaucher Disease at National Gaucher Foundation. Retrieved June 2012
• GM2 Gangliosidoses – Introduction And Epidemiology at Medscape. Author: David H Tegay. Updated: Mar 9, 2012
• Colaianni, Alessandra; Chandrasekharan, Subhashini; Cook-Deegan, Robert (2010). “Impact of Gene Patents and Licensing Practices on Access to Genetic Testing and Carrier Screening for Tay–Sachs and Canavan Disease”. Genetics in Medicine. 12 (4 Suppl): S5–S14. PMC 3042321 . PMID 20393311. doi:10.1097/GIM.0b013e3181d5a669.
• Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994). “Molecular genetics of metachromatic leukodystrophy”. Hum. Mutat. 4 (4): 233–42. PMID 7866401. doi:10.1002/humu.1380040402.
• Metachromatic leukodystrophy at Genetics Home Reference. Reviewed September 2007

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