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Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [1] [2] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
Pages in category "Lysosomal storage diseases" The following 9 pages are in this category, out of 9 total. This list may not reflect recent changes. *
The disease is characterized by bruises, fatigue, anaemia, low blood platelets, osteoporosis, and enlargement of the liver and spleen. [35] [36] As of 2017, enzyme replacement therapy is available for treating 8 of the 50-60 known LDs. [37] The most severe and rarely found, lysosomal storage disease is inclusion cell disease. [38]
Recurring respiratory infections are common, as are obstructive airway disease and obstructive sleep apnea. Many affected individuals also have heart disease, often involving enlarged or diseased heart valves. Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis.
Gaucher's disease is the most common of the lysosomal storage diseases. [2] It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. [3] The disease is named after the French physician Philippe Gaucher, who originally described it in 1882. [4]
Fabry disease is an inherited lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme deficiency is a result of an accumulation of glycosphingolipids found in the lysosomes and most cell types and tissues, which leads it to be considered a multisystem disease.
Cystinosis was the first documented genetic disease belonging to the group of lysosomal storage disease disorders. [4] Cystinosis is caused by mutations in the CTNS gene that codes for cystinosin, the lysosomal membrane-specific transporter for cystine. Intracellular metabolism of cystine, as it happens with all amino acids, requires its ...
The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, [2] [3] with the United States and Northern European populations having slightly higher frequency with an occurrence of ...