{"id":17833,"date":"2023-12-06T02:59:17","date_gmt":"2023-12-05T21:29:17","guid":{"rendered":"https:\/\/vajiramandravi.com\/current-affairs\/?p=17833"},"modified":"2025-04-05T06:56:37","modified_gmt":"2025-04-05T01:26:37","slug":"pompe-disease","status":"publish","type":"post","link":"https:\/\/vajiramandravi.com\/current-affairs\/pompe-disease\/","title":{"rendered":"What is Pompe disease?"},"content":{"rendered":"<h2>About Pompe disease<\/h2>\n<ul>\n<li>It is a\u00a0rare inherited disorder that affects one child per million.<\/li>\n<li>Causes\n<ul>\n<li>Mutations in the GAA gene cause Pompe disease.<\/li>\n<li>The GAA gene provides instructions for producing an\u00a0enzyme called acid alpha-glucosidase\u00a0(also known as acid maltase).<\/li>\n<li>This enzyme is\u00a0active in lysosomes, which are structures that serve as recycling centers within cells.<\/li>\n<li>The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.<\/li>\n<li>Mutations in\u00a0the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes.<\/li>\n<li>This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.<\/li>\n<\/ul>\n<\/li>\n<li>Some common side effects and symptoms include muscle weakness, respiratory issues, heart problems and difficulty swallowing.<\/li>\n<li>This\u00a0disease can be:\n<ul>\n<li>Infantile-onset: symptoms begin in the first few months after birth.<\/li>\n<li>Late-onset or delayed-onset: symptoms appear later in childhood or in adulthood.<\/li>\n<\/ul>\n<\/li>\n<li>It affects males and females equally.<\/li>\n<li>Treatment: The treatment includes enzyme replacement therapy (ERT).<\/li>\n<\/ul>\n<hr \/>\n<h3>Q1) What is enzyme?<\/h3>\n<p>An enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over.<\/p>\n<p><strong>Source:<\/strong> <a href=\"https:\/\/indianexpress.com\/article\/cities\/mumbai\/being-nidhis-parents-a-24-year-journey-of-joy-and-struggles-with-indias-first-pompe-disease-patient-9055760\/\" target=\"_blank\" rel=\"nofollow noopener\"><u>Being Nidhi\u2019s parents: A 24-year journey of joy and struggles with India\u2019s \u2018first\u2019 Pompe disease patient<\/u><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pompe disease is a rare inherited disorder that affects one child per million.<\/p>\n","protected":false},"author":5,"featured_media":17834,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[],"class_list":{"0":"post-17833","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\/17833","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=17833"}],"version-history":[{"count":0,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/17833\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media\/17834"}],"wp:attachment":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media?parent=17833"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/categories?post=17833"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/tags?post=17833"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}