lysosomal storage disease

(redirected from Lysosomal disorders)

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 ?
All this is because of inter-family marriages, they said mentioning that Lysosomal disorders affect 1 in 10,000 infants at birth.
The authors have successfully targeted 11 different lysosomal disorders that have very similar clinical presentations and are virtually indistinguishable in the first few months of life, when a diagnostic evaluation is likely to take place.
NYSE-AMEX: PLX, TASE: PLX), announced today that management presented data on the Company's preclinical Fabry program and oral enzyme Gaucher program with experts in the field of lysosomal disorders at a Company-sponsored medical meeting which was recently held in New York City.
So, that's another thing that's kind of coming, I would say, in the next five to seven years, so that every newborn would get screening for some of these lysosomal disorders.
Although individually rare, the combined prevalence of all lysosomal disorders is estimated to be 1 in 8000 births.
Although individually rare, collectively lysosomal disorders affect 1 in 10,000 infants at birth, in Pakistan their frequency is expected to be higher due to consanguineous marriages in many communities.
Our research at Amicus has demonstrated that studying the underlying pathology of lysosomal disorders can provide valuable insights into the mechanisms of age-related neurodegenerative diseases, and can lead to the identification of new targets for pharmacological chaperone-based therapies.
Clinical laboratories that measure lysosomal enzyme activities typically use sonicates or detergent extracts of mixed leukocyte pellets for enzymologic studies of lysosomal disorders.
However, they all share a common biochemical characteristic - all lysosomal disorders originate from an abnormal accumulation of substances inside the lysosome.
Companies included in the HealthShares(TM) Metabolic-Endocrine Disorders Index are engaged in the research, clinical development and/or commercialization of therapeutic agents for the treatment of a wide variety of metabolic-endocrine disorders including, but not limited to, diabetes, obesity, Syndrome X, growth deficiency and rare lysosomal disorders.
Although bone marrow transplantation treatment for lysosomal storage disorders (LSDs) has been in use for over 15 years, enzyme replacement therapy trials are now ongoing for several lysosomal disorders.
Colombian Patient Association of Lysosomal Disorders (ACOPEL) -- Colombia

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