lysosomal storage disease

(redirected from Lysosomal storage disorders)

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 expect to file the IND application for SB-318 with the FDA by the end of 2015 and look forward to advancing additional IVPRP programs in lysosomal storage disorders and hemophilia A into clinical development in the near future.
Wylder Nation Foundation is dedicated to improving the lives of children diagnosed with Lysosomal Storage Disorders by accelerating the discovery and development of treatment options.
KARACHI -- Taking exception to the trend of consanguineous marriages in local communities, experts have said that it has led to series of rare metabolic diseases among the children, including that of Lysosomal Storage Disorders (LSDs).
Finally, the applicant will explore the therapeutic potential of exosomes in cellular and mouse models of lysosomal storage disorders (LSDs).
Newborn screening activities to detect lysosomal storage disorders (NBS-LSD) have generated a great deal of discussion worldwide.
In addition, Genzyme is pleased to announce the launch of the third annual Patient Advocacy Leadership Awards (PAL Awards), a global grant program supporting non-profit patient organizations that work on behalf of individuals living with lysosomal storage disorders (LSDs), a group of rare, inherited disorders that cause progressive and debilitating health problems.
This study provides a non-invasive procedure that targets the blood-brain barrier and delivers large-molecule therapeutic agents to treat neurological lysosomal storage disorders," said Dao Pan, PhD, principal investigator on the study and researcher in the Cancer and Blood Diseases Institute at Cincinnati Children's.
The topics include organic acid disorders, lysosomal storage disorders, disorders of purine and pyrimidine metabolism, and newborn screening.
MPS diseases are a part of a larger group of disorders known as Lysosomal Storage Disorders ( LSDs), known to affect one in 5, 000 live births.
In the new paper, the lab found that the prescription drugs diltiazem and verapamil were effective in restoring partial cellular folding, trafficking, and function to mutant enzymes responsible for three lysosomal storage disorders, including Gaucher's disease.
Lysosomal storage disorders cover a range of 60 rare syndromes, which cause poor growth, abnormally formed bones and joints and heart valve along with difficulty breathing and affect as few as one in every 1,250,000 people.
Amicus is developing Plicera as part of a strategic collaboration with Shire Human Genetic Therapies (HGT), a business unit of Shire plc, to develop and commercialize Amicus' three lead pharmacological chaperone compounds for lysosomal storage disorders.