lysosomal storage disease


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lysosomal storage disease

 
any inborn error of metabolism in which the deficiency of a lysosomal enzyme results in 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.

lysosomal storage disease

n.
Any of various genetic diseases caused by a deficiency or defect in a specific lysosomal enzyme or in another lysosomal protein and resulting in the accumulation of undegraded macromolecules in the lysosomes.

lysosomal storage disease

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 ?
In lysosomal storage diseases like MPS I, enzymes needed to dissolve debris are missing, allowing debris to build up in cells until they malfunction.
Hepatomegaly and storage cells observed in both the bone marrow and liver biopsy with diffuse ascites strenghtened the suspicion of lysosomal storage disease.
The frequency of lysosomal storage diseases in The Netherlands.
CT}: Right now, the technology is becoming available and there is a whole push to get a number of lysosomal storage diseases as part of the newborn screening panel.
The findings could lead to a new non-invasive approach for treating neurological damage caused by lysosomal storage diseases.
Bone marrow transplantation and gene therapy for lysosomal storage diseases.
MONTREAL -- Angiochem announced today a global collaboration with GlaxoSmithKline (GSK) to discover, develop and commercialize treatments for lysosomal storage diseases (LSDs).
The data supporting the licence application have come from the single largest, longest and most comprehensive pivotal (Phase II/III) study of any lysosomal storage disease (LSD) to date.
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease).
The first collaborative initiative will focus on Translarna(TM) (ataluren) for the lysosomal storage disease Mucopolysaccharidosis I (MPS I) due to a nonsense mutation.
As we look to introduce additional lysosomal storage disease products into the franchise, we intend to build on this strong foundation," said Dr.
LAL Deficiency, also known as Wolman Disease and Cholesteryl Ester Storage Disease (CESD), is a rare lysosomal storage disease (LSD) that affects individuals from infancy through adulthood.

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