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Neutral lipid storage disease

Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordans' anomaly), muscle, liver, fibroblasts, and other tissues.:502:564 It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I), which are characterized primarily by cardiomyopathy and ichthyosis, respectively. Neutral lipid storage disease (also known as Chanarin–Dorfman syndrome) is an autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes (Jordans' anomaly), muscle, liver, fibroblasts, and other tissues.:502:564 It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I), which are characterized primarily by cardiomyopathy and ichthyosis, respectively. It can be associated with CGI58, in the case of NLSD-I, or ATGL in NLSD-M.

[ "Myopathy", "Triglyceride", "Mutation", "Lipase", "Adipose triglyceride lipase" ]
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