lysosomal storage diseases

lysosomal storage diseases

A heterogeneous group of diseases with specific lysosomal enzyme defects. Cf Inborn errors of metabolism.

lysosomal storage diseases

Genetic diseases in which defects in lysosomal enzymes result in the accumulation in the lysosomes of unsplit large molecules, such as glycosaminoglycans (mucopolysaccharides) and glycogen, engorging them and distorting other cell contents, affecting their function. These diseases include cystinosis, sialic acid storage disease and glycogen storage disease. They affect many parts of the body.

lysosomal

pertaining to or emanating from lysosomes.

lysosomal enzymes
enzymes located in the lysosomes.
lysosomal phospholipidosis
overloading of lysosomes with phospholipids as caused by the inhibition of phospholipidases by aminoglycosides.
lysosomal storage diseases
diseases in which there is a congenital or acquired deficiency of an enzyme so that one or more specific metabolic processes are not completed. As a result there is an accumulation of metabolic products in the cellular lysosomes. The histological lesion indicates the error in function but not the cause. Most of these diseases are inherited but swainsonine poisoning is caused by plant (Swainsona, Astragalus, Trachyandra spp.) poisoning. See also ceroid lipofuscinosis, glycogenosis, glycoproteinosis, lipid storage disease, mucopolysaccharidosis.
References in periodicals archive ?
Results thus far from the ongoing ABO-102 clinical trial support the tolerability of a systemically delivered AAV approach for the treatment of lysosomal storage diseases, stated Timothy J.
The money is for the MPS Society, who support families of people with any of the 25 rare lysosomal storage diseases, so that research might benefit Isla as she grows.
FDA for lysosomal storage diseases and is developing FINDER, a rapid near-patient newborn testing solution.
The lysosomal storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people.
It is progressing earlier stage programmes for lysosomal storage diseases, including next-generation therapeutics for NPC, a rare genetic disorder.
In several lysosomal storage diseases, the activity of GCase is reduced due to genetic mutations in the GBA1 gene.
The 17 chapters explore simple and complex carbohydrates and glycoconjugates; methods of structural analysis of glycosaminoglycans, applications of these methods for identification of lysosomal storage diseases, and participation in the development of Lyme disease; the role of viral envelope protein glycosylation in the pathogenesis of influenza A virus; the application of lectin histochemistry in the diagnosis of lysosomal storage diseases; computational approaches for studying carbohydrate-lectin interactions in infection; the pathogenic effects of altered sialylation of specific glycoconjugates in genetic diseases; sialyltransferase regulation of cancer-associated O-glycans; and the history of pectin study, chemistry, and medicinal uses of pectin.
Unfortunately people living with lysosomal storage diseases often feel isolated as there are few others they can share their anxieties with and many in the medical profession are not very aware of these disorders," said the senior child specialists representing different centres operational across the country.
The rare diseases platform will have leading products in the multi-billion-dollar therapeutic areas of hematology, immunology, neuroscience, lysosomal storage diseases, gastrointestinal/endocrine, and hereditary angioedema (HAE).
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.
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).
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.