Micrograph of Gaucher disease, with cells that have the characteristic crumpled tissue paper-like cytoplasm. H&E stain.
Specialty
Endocrinology
Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) 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. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it.[3]
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000.[4][5] Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, such as Fabry disease and Hunter syndrome (MPS II).
The lysosome is commonly referred to as the cell's recycling center because it processes unwanted material into substances that the cell can use. Lysosomes break down this unwanted matter by enzymes, highly specialized proteins essential for survival. Lysosomal disorders are usually triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome does not function normally, excess products destined for breakdown and recycling are stored in the cell.
Like other genetic disorders, individuals inherit lysosomal storage diseases from their parents. Although each disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common biochemical characteristic – all lysosomal disorders originate from an abnormal accumulation of substances inside the lysosome.
Lysosomal storage diseases affect mostly children and they often die at a young age, many within a few months or years of birth.
^Winchester B, Vellodi A, Young E (2000). "The molecular basis of lysosomal storage diseases and their treatment". Biochem. Soc. Trans. 28 (2): 150–4. doi:10.1042/bst0280150. PMID 10816117.
^Reece, Jane; Campbell, Neil (2002). Biology. San Francisco: Benjamin Cummings. pp. 121–122. ISBN 0-8053-6624-5.
^Meikle, P. J.; Hopwood, J. J.; Clague, A. E.; Carey, W. F. (20 January 1999). "Prevalence of lysosomal storage disorders". JAMA. 281 (3): 249–254. doi:10.1001/jama.281.3.249. ISSN 0098-7484. PMID 9918480. S2CID 14297661.
^M, Fuller; PJ, Meikle; JJ, Hopwood (2006). "2. Epidemiology of lysosomal storage diseases: an overview". Fabry Disease: Perspectives from 5 Years of FOS. Oxford PharmaGenesis. ISBN 1-903539-03-X. PMID 21290699. NBK11603.
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lysosomalstoragedisease. The condition is caused by a mutation of the LIPA gene, which encodes the lysosomal lipase protein (also called lysosomal acid...
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system functioning. The mucopolysaccharidoses are part of the lysosomalstoragedisease family, a group of genetic disorders that result when the lysosome...
Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomalstoragedisease that...
in body tissues. It is a form of lysosomalstoragedisease. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S)...
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histoplasmosis or it can be the sign of a serious and life-threatening lysosomalstoragedisease. Systemic venous hypertension can also increase the risk for developing...
decrease in intracellular L-SMase is observed. The lysosomalstorage disorders Niemann-Pick disease, SMPD1-associated (type A and B) are characterized...
metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomalstoragediseases. In...
In 2011, he became a cause ambassador to promote awareness of lysosomalstoragediseases. As of 2015, he is the treasurer of the Nadigar Sangam. Karthi...
available for some lysosomalstoragediseases: Gaucher disease, Fabry disease, MPS I, MPS II (Hunter syndrome), MPS VI and Pompe disease. ERT does not correct...
this intracellular material are part of the lysosomalstoragediseases family of disorders. Many lipid storage disorders can be classified into the subgroup...
disorders) is an extremely rare, progressive, autosomal recessive lysosomalstoragedisease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase...
N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomalstoragedisease aspartylglycosaminuria is caused by a deficiency...
mucopolysaccharidosis type VII (MPS-VII), is an autosomal recessive lysosomalstoragedisease caused by a deficiency of the enzyme β-glucuronidase. This enzyme...
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