Neutral lipid storage disease

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Neutral lipid storage disease
Chanarin-Dorfman Syndrome smear 2009-11-13.JPG

Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues.[1]:502[2]:564 It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I), which are characterized primarily by cardiomyopathy and ichthyosis, respectively.

It can be associated with CGI58, in the case of NLSD-I, or ATGL in NLSD-M.[3][4][5]

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References[edit]

  1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ Lefèvre C, Jobard F, Caux F, et al. (November 2001). "Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome". Am. J. Hum. Genet. 69 (5): 1002–12. doi:10.1086/324121. PMC 1274347Freely accessible. PMID 11590543. 
  4. ^ Yamaguchi, Tomohiro; Osumi, Takashi (2009). "Chanarin–Dorfman syndrome: Deficiency in CGI-58, a lipid droplet-bound coactivator of lipase". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1791 (6): 519–523. doi:10.1016/j.bbalip.2008.10.012. ISSN 1388-1981. 
  5. ^ Viel, Alain. "Harvard University, "Principles of Biochemistry."". YouTube. 

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Classification
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