lipid storage diseases

lipid storage diseases

A group of rare conditions–eg, Fabry's disease, Niemann-Pick disease, and sea-blue histiocytosis syndrome, which are often fatal in early childhood, usually due to a catabolic defect of lipid metabolism and characterized by the accumulation of lipids in one or more organs. See Pseudo-Gaucher's disease, Sphingolipidosis.
References in periodicals archive ?
Niemann-Pick disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases, in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain.
Niemann-Pick disease (NPD) is a very rare lipid storage disease.
Although an association between amino acid metabolism disorders such as lysinuric protein intolerance and HLH was reported, there is no documented case in the literature about HLH secondary to a lipid storage disease (9), (10).