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 ?
Detecting multiple lysosomal storage diseases by tandem mass spectrometry: a national newborn screening program in Taiwan.
Lysosomal storage diseases which are characterized by non-immune hydrops fetalis include GM1-gangliosidosis, mucopolysaccharidosis type VII, gaucher disease, sialidosis and Salla disease (8).
The findings could lead to a new non-invasive approach for treating neurological damage caused by lysosomal storage diseases.
Our collaboration with GSK reflects our belief in the need to effectively address neurological symptoms of lysosomal storage diseases.
Reduced activity of these enzymes may be indicative of lysosomal storage diseases Mucopolysaccharidosis Type I (MPS I), Pompe, Gaucher or Fabry, respectively.
The Company is developing novel treatments for devastating brain disorders, such as brain cancer, neurodegenerative diseases and lysosomal storage diseases, by combining existing drugs with the G-Technology[R], to-BBB's proprietary brain delivery platform.
Why is drug development of orphan diseases such as lysosomal storage diseases uniquely suited to take advantage of the 12-year market exclusivity afforded to original biologics in the United States?
In return for the license, StemCells received an equity interest in ReNeuron and a cross-license to the exclusive use of ReNeuron's technology for certain diseases and conditions, including lysosomal storage diseases, spinal cord injury, cerebral palsy and multiple sclerosis.
Our pre-clinical research has shown great promise and this filing is an essential step in discovering how to translate those pre-clinical results into treatment of human victims of terrible disorders like Batten disease and other neurodegenerative lysosomal storage diseases.
Lysosomal storage diseases are a group of approximately 40 diseases and occur in an estimated 1 in 5,000 live births, displaying considerable clinical and biochemical heterogeneity.
The money is for the MPS Society, who support families of people with any of the 25 rare lysosomal storage diseases, so that research might benefit Isla as she grows.
FDA for lysosomal storage diseases and is developing FINDER, a rapid near-patient newborn testing solution.

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