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Neutral lipid storage disease
rareNeutral 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.
- Identifiers
- MONDO:0015611 Orphanet:165
- Part of
- Disorder of phospholipids, sphingolipids and fatty acids biosynthesisLysosomal lipid storage disorder
- Also known as
- lipidosis with triglycerid storage disease · lipidosis with triglyceride storage disease
Subtypes
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