{"id":10283,"date":"2023-04-30T04:01:06","date_gmt":"2023-04-29T22:31:06","guid":{"rendered":"https:\/\/vajiramandravi.com\/current-affairs\/?p=10283"},"modified":"2025-03-29T19:18:21","modified_gmt":"2025-03-29T13:48:21","slug":"fabry-disease","status":"publish","type":"post","link":"https:\/\/vajiramandravi.com\/current-affairs\/fabry-disease\/","title":{"rendered":"Fabry Disease"},"content":{"rendered":"<h2><strong>About<\/strong> <strong>Fabry Disease:\u00a0<\/strong><\/h2>\n<ul>\n<li>It is a <strong>rare inherited disorder<\/strong> of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, <strong>alpha-galactosidase A (\u03b1-Gal A).<\/strong><\/li>\n<li>It belongs to a group of diseases known as <strong>lysosomal storage disorders.<\/strong><\/li>\n<li>This enzymatic deficiency is <strong>caused by<\/strong> alterations (mutations) in <strong>the \u03b1-galactosidase A (GLA) gene<\/strong> that instructs cells to make the \u03b1-galactosidase A (\u03b1-Gal A) enzyme.<\/li>\n<li>Lysosomes function as the primary digestive tract of cells.\u00a0<\/li>\n<li><strong>Symptoms:<\/strong> Numbness, tingling, burning or pain in the hands or feet, extreme pain during physical activity and heat or cold intolerance etc.<\/li>\n<li>The types of Fabry disease\n<ul>\n<li><strong>Classic type:<\/strong> Symptoms of this type appears <strong>during childhood<\/strong> or the teenage years. It may be noticeable as early as age two.<\/li>\n<li><strong>Late-onset\/atypical type:<\/strong> People with late-onset Fabry disease don\u2019t have symptoms <strong>until they\u2019re in their 30s or older<\/strong>.<\/li>\n<li>The first indication of a problem may be kidney failure or heart disease.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Treatment: <\/strong>The patients are treated by intravenously administered <strong>enzyme replacement therapy (ERT)<\/strong> or Oral Chaperone Therapy<\/li>\n<\/ul>\n<h3>What are Lysosomes?<\/h3>\n<ul>\n<li>These are simple tiny spherical <strong>sac-like structures present in the cytoplasm.<\/strong><\/li>\n<li>These <strong>are membrane-enclosed organelles<\/strong> that contain an array of enzymes capable of breaking down all types of biological polymers\u2014proteins, nucleic acids, carbohydrates, and lipids.<\/li>\n<li>These function as <strong>the digestive system of the cell<\/strong>, serving both to degrade material taken up from outside the cell and to digest obsolete components of the cell itself.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<hr \/>\n<h3>Q1) What are Enzymes?<\/h3>\n<p>Enzymes are proteins that act as catalysts to facilitate biochemical reactions in living organisms. They speed up the rate of chemical reactions without themselves being consumed or altered in the process.<\/p>\n<p><strong>Source:<\/strong>\u00a0<a href=\"https:\/\/www.thehindu.com\/sci-tech\/health\/despite-availability-of-funds-patients-with-rare-fabry-disease-yet-to-be-given-treatment-says-support-society\/article66789167.ece\" target=\"_blank\" rel=\"nofollow noopener\"><u>Despite the availability of funds, patients with rare Fabry Disease are yet to be given treatment, says Support society<\/u><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Fabry Disease is a rare inherited disorder of glycosphingolipid (fat) metabolism.<\/p>\n","protected":false},"author":5,"featured_media":10284,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[],"class_list":{"0":"post-10283","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-upsc-prelims-current-affairs","8":"no-featured-image-padding"},"acf":[],"_links":{"self":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/10283","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/comments?post=10283"}],"version-history":[{"count":0,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/10283\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media\/10284"}],"wp:attachment":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media?parent=10283"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/categories?post=10283"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/tags?post=10283"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}