lysosomal storage disease

(redirected from Lysosomal storage 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 ?
Disorders such as Thalassemia, Hemophilia, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Fragile X, Inborn Errors of Metabolism, and Lysosomal Storage Disorders are just some frequently encountered genetic disorders, informed Dr.
Proceeds from the financing will be used to advance multiple gene therapies from Avrobio's proprietary lentiviral platform, including the company's lead gene therapy, AVR-RD-01, currently in Phase 1 for Fabry disease, as well as three additional gene therapies for other lysosomal storage disorders, Gaucher disease, cystinosis and Pompe disease.
This paper presents a case for the prevention of the lysosomal storage disorders as a model for other inherited metabolic disorders in the form of antenatal testing and cascade screening for couples and families at risk of having affected off-springs and compares it to the cost incurred on the enzyme replacement therapy in the backdrop of the health care priorities of Pakistan, a low middle income country.
As the first newborn screening platform for lysosomal storage disorders authorized by the U.
These presentations will detail data from clinical and research programs utilizing gene therapy as a potential treatment for patients with the lysosomal storage disorders Sanfilippo syndrome and Batten Disease, and the Companys next generation AAV AIM Vector platform.
has entered a collaboration with Ranedis Pharmaceuticals to advance the development of RND-001 for rare genetic diseases, including certain lysosomal storage disorders and other diseases affecting the central nervous system.
KARACHI -- Pakistan is in need of a policy to prevent and manage Lysosomal Storage Disorders coupled with provision for special funds to treat patients comprising children below one.
Other lysosomal storage disorders (LSD) have also been suggested for inclusion in the Recommended Uniform Screening Panel (2).
The acquisition gives Immusoft a license to use the Sleeping Beauty Transposon System for MPS I, and license options for hemophilia and inherited lysosomal storage disorders.
Fareeduddin said there are over 40 types of LSDs and the estimated combined incidence of all lysosomal storage disorders is about 1 in 5,000 live births.
KARACHI -- In Pakistan more than hundred patients of Lysosomal Storage Disorders (LSD) have been diagnosed in the last 8 months and a large number of suspected cases of LSDs have been due to the strong trend of interfamily marriages.
The current classes of inborn errors of metabolism include disorders of protein metabolism, disorders of carbohydrate metabolism, lysosomal storage disorders, disorders of lipid metabolism, mitochondrial disorders, peroxisomal disorders and trace metal disorders [5].