lysosomal storage disease

(redirected from Lysosomal storage disorder)

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 ?
We will continue to leverage the potential of this strategy for development of ZFP Therapeutics for other monogenic diseases, and remain on track to file IND applications for the hemophilia B program and the first of our lysosomal storage disorder programs by the end of 2015.
Doctors talking to reporter on Wednesday regretted that government funds are also not specifically allocated to manage such diseases including thalassaemia, haemophilia, lysosomal storage disorder, down syndrome etc.
Fabry disease is a lysosomal storage disorder (LSD) that interferes with the body's ability to break down a specific fatty substance ( globotriaosylceramide or Gb3) which accumulates within the body due to deficiency of a specific enzyme (a-galactosidase A).
After meeting the children who suffer from this disease, like an 18-year-old who has already had three kidney transplants, and the families who are desperately searching for help, our team is committed to moving toward a cure for cystinosis, a lysosomal storage disorder.
Gaucher disease, the most commonly diagnosed lysosomal storage disorder, is
Fabry disease is a lysosomal storage disorder caused by inherited genetic mutations in the GLA gene, which result in deficient activity of the enzyme alpha-galactosidase A (alpha-GAL).
Lysosomal Storage Disorder - Pipeline Review, Half Year is built using data and information sourced from Global Markets Direct's proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together by Global Markets Direct's team.
Sangamo has greatly benefited from our collaboration with Shire, whose financial support has significantly aided in the development of our in vivo protein replacement platform, or IVPRP, which forms the basis of our hemophilia and lysosomal storage disorder programs," said Edward Lanphier, Sangamo's president and chief executive officer.
BioMarin seeks to get the candidate approved for the treatment of patients suffering from the lysosomal storage disorder Morquio A syndrome.
Mucopolysaccharidosis II (MPS II, (3) Hunter syndrome) is an X-linked, recessively inherited, lysosomal storage disorder (LSD) (1).
Sebelipase alfa (formerly referred to as SBC-102) is a recombinant form of the human LAL enzyme under development by Synageva as an enzyme replacement therapy for LAL Deficiency, a lysosomal storage disorder (LSD).
Gaucher disease is the most prevalent lysosomal storage disorder with an estimated frequency of 1 in 57 000 births in Australia (3).