Neutral lipid storage disease
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| Neutral lipid storage disease | |
| Classification and external resources | |
| File:Chanarin-Dorfman Syndrome smear 2009-11-13.JPG | |
|---|---|
| OMIM | 275630 |
| DiseasesDB | 32708 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Chanarin-Dorfman syndrome
Overview[edit | edit source]
Neutral lipid storage disease 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]
References[edit | edit source]
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Lefèvre C, Jobard F, Caux F; et al. (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. Unknown parameter
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