This group of diseases is characterized by accumulation of intermediary biochemical substances in lysosomes. This may be caused by defects of either enzyme or membrane transporter function and presents enlarged vacuoles, transformed lysosomes, in the cell. Because lysomomes are important organelles, which play an important role in almost all types of cells, the diseases involve several organs.
|Hereditary metabolic diseases|
|Coenzyme Q10 deficiency|
|Congenital disorder of glycosylation|
|Disorders of cobalamin metabolism|
|Disorders of iron metabolism|
|Disorders of urate metabolism|
|Disturbances in phosphate metabolism|
|Disturbances of glucose metabolism|
|Hereditary disorders protein metabolism|
|Hereditary lipid disorders|
|Hyperzincemia and hypercalprotectinemia|
|Lysosomal storage disease|
|Infantile sialic acid storage disorder|
|Lysosomal acid lipase deficiency|
|Methionine adenosyltransferase deficiency|
|Urea cycle disorders|
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None (2009) Gene therapy for lysosomal storage diseases (LSDs) in large animal models.
None (2009) Pathogenic cascades in lysosomal disease-Why so complex?
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Jakóbkiewicz-Banecka J et al. (2007) Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.
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OMIM.ORG articleOmim 256150
Orphanet articleOrphanet ID 309294
Wikipedia articleWikipedia EN (Lysosomal_storage_disease)