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 ?
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. Mol Genet Metab 2004; 83(3): 231-238.
The findings could lead to a new non-invasive approach for treating neurological damage caused by lysosomal storage diseases.
{CT}: Right now, the technology is becoming available and there is a whole push to get a number of lysosomal storage diseases as part of the newborn screening panel.
Classical lysosomal storage diseases (LSDs) (4) are a collection of at least 50 inborn errors of metabolism resulting from a deficiency in the function of lysosomal enzymes and transporters (1).
Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 2003; 60:322-8.
MPS IIIA or Sanfilippo A syndrome is an inherited systemic lysosomal storage disease with a significant central nervous system component.
for ten years, holding various senior management positions, the most recent of which was group vice president of clinical development, in which he supervised clinical research in lysosomal storage disease programs and genetic neurological disorders.
Sanfilippo B, a lysosomal storage disease, is caused by deficiency in the enzyme alpha-N-acetyglucosaminidase (NAGLU), one of the four enzymes required for heparan sulfate degradation.

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