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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Neutral lipid storage disease

Introduction

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Synonyms and keywords: Chanarin-Dorfman syndrome

Overview

Overview

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

References

  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. (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 |month= ignored (help)

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]