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Neutral lipid storage disease

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; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished.

ORPHA:165

  • Synonym(s):
    • Lipidosis with triglyceride storage disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.5
  • OMIM: -
  • UMLS: C0268238
  • MeSH: C536560
  • GARD: 3262
  • MedDRA: -

Additional information

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