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.

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.
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 III is a lysosomal storage disease, a group of rare inborn errors of metabolism resulting from deficiency in normal lysosomal function.
MPS IIIA or Sanfilippo A syndrome is an inherited systemic lysosomal storage disease with a significant central nervous system component.
Abeona Therapeutics Inc., a leading clinical-stage biopharmaceutical company focused on developing novel cell and gene therapies for life-threatening rare genetic diseases, today announced updated clinical data from the ongoing Phase 1/2 trial for ABO-102 (AAV-SGSH), the companys investigational gene therapy for the treatment of Sanfilippo syndrome Type A (MPS IIIA), a rare autosomal-recessive lysosomal storage disease. The results demonstrate robust and durable clinical effects achieved throughout various timepoints post-administration.
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.
MPS IIIB is a devastating and progressive lysosomal storage disease with no approved treatment options.
NPC1 is a lysosomal storage disease, characterized by too much cholesterol and other lipids in the cells lysosomes, which are sacs of enzymes that break apart proteins, fats and other materials for recycling.

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