Details of Disease
General Information of Disease (ID: DISY442E)
| Disease Name | Neutral lipid storage disease | ||||
|---|---|---|---|---|---|
| Synonyms | lipidosis with triglycerid storage disease; Chanarin-Dorfman syndrome; lipidosis with triglyceride storage disease | ||||
| Definition |
Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished.|Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype.
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