Neutral lipid storage disease

Neutral lipid storage disease
Classification and external resources
OMIM	275630
DiseasesDB	32708

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 can be associated with CGI58.^[3]

See also

• List of cutaneous conditions

References

1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
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 1274347. PMID 11590543. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61316-0. 

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