{"id":375,"date":"2020-02-16T11:06:31","date_gmt":"2020-02-16T05:36:31","guid":{"rendered":"https:\/\/medicineplexus.com\/?p=375"},"modified":"2020-02-16T11:06:31","modified_gmt":"2020-02-16T05:36:31","slug":"enzyme-replacement-therapy","status":"publish","type":"post","link":"https:\/\/medicineplexus.com\/enzyme-replacement-therapy\/","title":{"rendered":"Enzyme Replacement Therapy"},"content":{"rendered":"\n
Lysosomal storage disorders<\/strong>:<\/p>\n\n\n\n Functionally these disease can be classified as:<\/p>\n\n\n\n 1. deficiencies of a single lysosomal hydrolase.<\/p>\n\n\n\n 2. multiple hydrolase deficiencies secondary to the default of co- or posttranslational maturation step.<\/p>\n\n\n\n 3. deficiencies in lysosomal membrane transporters for small molecules.<\/p>\n\n\n\n 4. diseases of the endolysosomal system.<\/p>\n\n\n\n 5. deficiencies in other lysosomal proteins.<\/p>\n\n\n\n Accumulation of lysosomal storage causes lysosomal dysfunction, leading to cellular, tissue and organ damage, and increased manifestations of disease.<\/p>\n\n\n\n Lysosomes:<\/strong><\/p>\n\n\n\n Enzyme replacement therapy:<\/strong><\/p>\n\n\n\n Most LSD have CNS involvement, to overcome the blood brain barrier, direct infusion of enzymes in the spinal canal or intra ventricularly are being tried.<\/p>\n\n\n\n ERT does not alter the natural history of the skeletal disorder in mucopolysaccharidoses and children will still endure the skeletal changes of the disease due to poor vascularity of the cartilages and poor uptake due the lack of M6P receptors<\/p>\n\n\n\n In India, there are six centres in cities Mumbai, Delhi, Lucknow and Chennai for Enzyme Replacement Therapy<\/strong>. The major factor limiting the widespread use is the cost of these medications.<\/p>\n\n\n\n Some important therapeutic enzymes<\/p>\n\n\n\n As enzymes are specific biological catalysts, they should make the most desirable therapeutic agents for the treatment of metabolic diseases. Unfortunately a number of factors severely reduces this potential utility:<\/p>\n\n\n\n enzymes have not yet been successful applied to the large number of human genetic diseases<\/p>\n\n\n\n which may cause severe and life threatening allergic reactions, particularly .on continued use<\/p>\n\n\n\n Lysosomal storage disorders: group of inherited disorders caused by genetic defects in lysosomal hydrolases, membrane proteins, receptors or integral membranes causing accumulation of a variety of substrates that are specific to each disorder. pathology \u00e0 intra-lysosomal storage in multiple tissues and association of visceral, ocular, hematologic, skeletal and neurological manifestations. progressive, and ultimately fatal, characterized[…]\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_seopress_robots_primary_cat":"","_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","footnotes":""},"categories":[3],"tags":[],"_links":{"self":[{"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/posts\/375"}],"collection":[{"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/comments?post=375"}],"version-history":[{"count":0,"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/posts\/375\/revisions"}],"wp:attachment":[{"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/media?parent=375"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/categories?post=375"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medicineplexus.com\/wp-json\/wp\/v2\/tags?post=375"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}Disease<\/strong><\/td> Deficient enzyme<\/strong><\/td> Pathological macromolecule<\/strong> accumulated<\/strong><\/td> FDA Approved enzyme<\/strong><\/td><\/tr> Fabry Disease<\/td> \u03b1-galactosidase A<\/td> Glycosphingolipids<\/td> Fabrazyme\u00ae<\/td><\/tr> Type 1 Gaucher disease<\/td> Glucocerebrosidase<\/td> glucosylceramide<\/td> Cerezyme\u00ae, VPRIV\u2122, Elelyso\u2122<\/td><\/tr> Glycogen Storage Disease type II (Pompe disease)<\/td> acid alpha-glucosidase<\/td> Glycogen<\/td> Myozyme\u00ae, Lumizyme\u00ae<\/td><\/tr> MPS I (Hurler, Hurler-Scheie, or Scheie syndrome)<\/td> alpha-L-iduronidase<\/td> glycosaminoglycansdermatansulfate and heparansulphate<\/td> Aldurazyme<\/td><\/tr> MPS II (Hunter disease)<\/td> iduronatesulfatase<\/td> glycosaminoglycansdermatansulfate and heparansulphate<\/td> Elaprase\u00ae<\/td><\/tr> MPS VI (Maroteaux-Lamy syndrome)<\/td> arylsulfatase B<\/td> dermatansulfate glycosaminoglycan<\/td> Naglazyme<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n Enzyme<\/td> Use<\/strong><\/td><\/tr> Asparaginase<\/td> Leukaemia<\/td><\/tr> Collagenase<\/td> Skin ulcers<\/td><\/tr> Hyaluronidase<\/td> Heart attack<\/td><\/tr> Lysozyme<\/td> Bacterial cell wall hydrolysis- Antibiotic<\/td><\/tr> Ribonuclease<\/td> Antiviral<\/td><\/tr> Streptokinase, Urokinase<\/td> Blood clots<\/td><\/tr> Trypsin<\/td> Inflammation<\/td><\/tr> Uricase<\/td> Gout<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n