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 ?
Speaking at an awareness seminar on Lysosomal Storage Disorder (LSD) in Karachi on Saturday, National Institute of Blood Diseases (NIBD) head and consultant haematologist Prof Tahir Shamsi urged the federal and provincial governments to set up facilities for screening children suffering from blood disorders.
Amicus Therapeutics announced additional positive results from a global Phase 1/2 clinical study to investigate ATB200/AT2221 in patients with Pompe disease, an inherited lysosomal storage disorder caused by an enzyme deficiency that leads to accumulation of glycogen in cells.
It is a metabolic lysosomal storage disorder resulting from the deficiency of beta-glucuronidase.
This strategic collaborative approach from EMA and the FDA discusses possible ways to enhance the efficiency of medicine development in Gaucher disease, a rare lysosomal storage disorder, which is used as a model to reflect on recent progress made in the area of data extrapolation.
Brammer Bio will produce LYS-GM101, an AAVrh10-based gene therapy, for clinical testing of the therapeutic candidate in patients with GM1 Gangliosidosis, a rare neuronopathic lysosomal storage disorder.
Prof Huma Arshad Cheema, Head of Pediatrics Gastroenterology Hepatology Department, Lahore Children Hospital, who successfully managed to establish registry in 2013 for relevant cases mentioned that around 32 Lysosomal Storage Disorder patients died last year.
PESHAWAR -- Department of Pediatric MTI Khyber Teaching Hospital, Peshawar has arranged a Seminar on the Topic of Genomic Aspects of Mucopolysaccridoses Lysosomal Storage Disorder in Conference Room MTI KTH here on Friday.
Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.
KARACHI -- Federal and provincial governments here on Sunday were urged to provide free of cost treatment for children suffering from Lysosomal Storage Disorder (LSD), once considered a rare disease in Pakistan.
USPRwire, Mon Jan 25 2016] GlobalData's clinical trial report, "Lysosomal Storage Disorder Global Clinical Trials Review, H2, 2015" provides an overview of Lysosomal Storage Disorder clinical trials scenario.
He suffers from the rare Lysosomal Storage Disorder also known as Gaucher's Disease.