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 ?
Lysosomal storage diseases are caused by deficiencies in enzymes that break down larger molecules.
Bone marrow transplantation and gene therapy for lysosomal storage diseases.
This Transcend-coupled enzymes claimed in the patent allowance include those that are used clinically as enzyme replacement therapies to treat lysosomal storage diseases, representing USD2bn market.
The lysosomal storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people.
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
In several lysosomal storage diseases, the activity of GCase is reduced due to genetic mutations in the GBA1 gene.
The 17 chapters explore simple and complex carbohydrates and glycoconjugates; methods of structural analysis of glycosaminoglycans, applications of these methods for identification of lysosomal storage diseases, and participation in the development of Lyme disease; the role of viral envelope protein glycosylation in the pathogenesis of influenza A virus; the application of lectin histochemistry in the diagnosis of lysosomal storage diseases; computational approaches for studying carbohydrate-lectin interactions in infection; the pathogenic effects of altered sialylation of specific glycoconjugates in genetic diseases; sialyltransferase regulation of cancer-associated O-glycans; and the history of pectin study, chemistry, and medicinal uses of pectin.
Unfortunately people living with lysosomal storage diseases often feel isolated as there are few others they can share their anxieties with and many in the medical profession are not very aware of these disorders," said the senior child specialists representing different centres operational across the country.
The rare diseases platform will have leading products in the multi-billion-dollar therapeutic areas of hematology, immunology, neuroscience, lysosomal storage diseases, gastrointestinal/endocrine, and hereditary angioedema (HAE).
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.
London, May 10 (ANI): Scientists at The Scripps Research Institute have shed light on a mechanism that enables a potential treatment for Gaucher's disease and other lysosomal storage diseases.
uk - The Society for MPS represents 1,200 children and adults in the UK suffering from all lysosomal storage diseases.

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