lipid storage disease


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lipid storage disease

A group of rare inherited disorders of fat metabolism in which lipids are metabolized abnormally and accumulate in tissues such as the brain and peripheral nerves.

storage disease

any metabolic disorder in which some substance (e.g. fats, proteins or carbohydrates) accumulates in certain cells in abnormal amounts; called also thesaurismosis, thesaurosis.

lipid storage disease
any disorder of cellular metabolism that results in accumulation of lipids in tissues, e.g. gangliosidosis, sphingomyelinosis, gaucher's disease, globoid cell leukodystrophy, metachromatic leukodystrophy. Called also lipidosis.
lysosomal storage disease
any inborn error of metabolism in which the deficiency of a lysosomal enzyme results in the accumulation of the substance normally degraded by that enzyme in the lysosomes of certain cells. These diseases are further classified, depending on the nature of the stored substance, as glycogen storage diseases (glycogenoses), sphingolipidoses, mucopolysaccharidoses and mucolipidoses.
References in periodicals archive ?
CDS is a rare autosomal recessive inherited lipid storage disease associated with congenital ichthyotic erythroderma, and is characterized by neutral lipid accumulation in different organs, such as skin, muscle, the liver, central nervous system, and granulocytes (2), (3), (5).
In conclusion, although CDS is a rare lipid storage disease, it should be a consideration in every patient with congenital ichthyosis, especially those with extracutaneous signs, as a simple peripheral smear can establish the diagnosis.
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).
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.