storage disease

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storage disease

[′stȯr·ij di‚zēz]
(medicine)
Metabolic abnormality in which some substance (such as fats, proteins, or carbohydrates) accumulates in abnormal amounts in certain body tissues.
References in periodicals archive ?
Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases.
Lysosomal storage diseases are reportedly inherited metabolic disorders caused by a deficiency in lysosomal enzymes, of which approximately 50 have been described to date.
Enzyme replacement therapy for lysosomal storage diseases.
MPS I is one of the most common lysosomal storage diseases to affect the central nervous system, which in severe form can become Hurler syndrome.
Sialidosis is a rare lysosomal storage disease with an incidence of 1/250 000-2 000 000 live births.
Health professionals in the field of Lysosomal Storage Diseases (LSD), a collective term for over 50 rare inherited metabolic diseases that mostly affect children, from across the globe attended a conference organised by the Hamad Medical Corporation to discuss the recent advances in basic and clinical aspects of the diseases.
For example, there are a number of lysosomal storage diseases for which there is therapy replacing the enzyme.
Desnick, chairman of the department of human genetics at Mount Sinai Medical Center in New York, and a collaborator on the study A similar reversal of pathology has also been seen with enzyme replacement used to treat another lysosomal storage disease, Gaucher's disease.
Besides Hurler syndrome, Pan said the study will have positive implications in the treatment of many other lysosomal storage diseases, which affect different parts of the body, depending on the specific enzyme deficiency.
About MPS IIIB: (also known as Sanfilippo syndrome type B) is a genetic, progressive, and devastating rare lysosomal storage disease.
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.
The drug is known as Galaford (migalastat) and is used for the treatment of Fabry disease, a rare inherited lysosomal storage disease, which is caused by an enzyme deficiency in the alpha-galactosidase A (alpha-gal A).

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