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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
References in periodicals archive ?
Science company Pfizer Inc (NYSE:PFE) and Protalix BioTherapeutics Inc (NYSE MKT:PLX) jointly reported on Monday the receipt of regulatory approval for UPLYSO (alfataliglicerase) for the long-term enzyme replacement therapy for adults with a confirmed diagnosis of Type I Gaucher disease, a rare lysosomal storage disorder that affects 10,000 people worldwide.
Daly demonstrated that a single treatment at birth could completely prevent the development of clinical disease in a murine model of mucopolysaccharidosis type VII, a lysosomal storage disorder. Dr.
Sialic acid storage disease (SASD) is a rare autosomal recessive lysosomal storage disorder characterized by excessive urinary excretion of free sialic acid and an accumulation of free sialic acid in skin fibroblasts (1).
Gaucher disease is an inherited lysosomal storage disorder in humans and can cause severe and debilitating symptoms, including enlargement of the liver and spleen, various forms of bone disease, easy bruising and anemia.
Biopharmaceuticals company BioMarin Pharmaceutical Inc (Nasdaq:BMRN) reported on Thursday the completion of the enrollment for its pivotal Phase 3 trial of GALNS for lysosomal storage disorder Mucopolysaccharidosis Type IVA.
[5] Nonstandard abbreviations: LSD, lysosomal storage disorder; LAMP, lysosome-associated membrane protein; MLD, metachromatic leukodystrophy; and MPS, mucopolysaccharidosis.
Biopharmaceutical company Amicus Therapeutics (Nasdaq:FOLD) and GlaxoSmithKline (GSK) revealed jointly on Monday the dosing of the first patient in a Phase 3 global registration study of Amigal and enzyme replacement therapy for the treatment of Fabry disease, a rare inherited lysosomal storage disorder.
[4] Nonstandard abbreviafions: LSD, lysosomal storage disorder; LAMP, lysosome-associated membrane protein; and MOM, mulfiples of median.
"The brains of people who have lysosomal storage disorder, another well-studied disease, and the brains of people who have Alzheimer's disease are similar in terms of lysosomal storage," Julian said.
Nephropathic cystinosis is a rare, life-threatening metabolic lysosomal storage disorder that causes toxic accumulation of cystine in all cells, tissues, and organs in the body.
MPS-I is a progressive, debilitating and often life-threatening inherited lysosomal storage disorder. Patients often experience neurocognitive impairment, skeletal deformity, loss of vision and hearing, and cardiovascular and pulmonary complications, with the most severe form known as Hurler syndrome.
Biologics technology company WuXi Biologics (Stock code:2269.HK) reported on Wednesday the receipt of the US FDA's breakthrough therapy designation for AT-GAA (ATB200/AT2221) in late onset Pompe disease, an inherited lysosomal storage disorder caused by the deficiency of an enzyme known as acid alpha-glucosidase (GAA).