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Lysosomal lipid storage disorder

rare

An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes.

Also known as
inborn error of lipid storage · lipid storage disease · lipoid storage disease · lipoid storage disorder · rare inborn error of lipid storage
Disease Subtypes
Sphingolipidosis 56
Neuronal ceroid lipofuscinosis 39
Cerebral lipidosis with dementia 30
Neutral lipid storage disease 5
Lysosomal acid lipase deficiency 2
Triglyceride storage disease 2
Xanthomatosis 1

Projects

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