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Neutral lipid storage disease

ORPHA:165

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal