{"id":38512,"date":"2023-12-08T06:46:36","date_gmt":"2023-12-08T01:16:36","guid":{"rendered":"https:\/\/vajiramandravi.com\/current-affairs\/?p=38512"},"modified":"2025-04-23T11:45:27","modified_gmt":"2025-04-23T06:15:27","slug":"pompe-disease-2","status":"publish","type":"post","link":"https:\/\/vajiramandravi.com\/current-affairs\/pompe-disease-2\/","title":{"rendered":"India\u2019s first Pompe disease patient passes away"},"content":{"rendered":"<h2>What\u2019s in today\u2019s article?<\/h2>\n<ul>\n<li>Why in news?<\/li>\n<li>Pompe disease<\/li>\n<li>What is Pompe Disease?<\/li>\n<li>How does Pompe disease affect an individual?<\/li>\n<li>How is Pompe disease diagnosed?<\/li>\n<li>Is Pompe disease curable?<\/li>\n<\/ul>\n<h2>Why in news?<\/h2>\n<ul>\n<li>Nidhi Shirol, India\u2019s first Pompe disease patient, passed away last month at the age of 24 years after battling the disease.<\/li>\n<li>She spent the last six years in a semi-comatose state.<\/li>\n<\/ul>\n<h2>What is Pompe Disease?<\/h2>\n<ul>\n<li>Also known as Glycogen Storage Disease Type II, Pompe disease is a rare genetic disorder.<\/li>\n<li>It is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA).\n<ul>\n<li>This enzyme is crucial for <u>breaking down glycogen into glucose within the lysosomes of cells<\/u>.<\/li>\n<\/ul>\n<\/li>\n<li>Its prevalence estimates range from 1 in 40,000 to 1 in 300,000 births. It occurs across diverse ethnicities and populations.<\/li>\n<\/ul>\n<h2>How does Pompe disease affect an individual?<\/h2>\n<ul>\n<li>Muscle weakness:\n<ul>\n<li>Progressive muscle weakness is a primary feature of Pompe disease.<\/li>\n<li>It affects both skeletal and smooth muscles, leading to difficulties in mobility and daily activities.<\/li>\n<li>Weakness in the respiratory muscles can result in breathing difficulties, especially during physical exertion or even while lying down.<\/li>\n<\/ul>\n<\/li>\n<li>Motor skill delay:\n<ul>\n<li>Children with the disease may experience delays in achieving motor milestones, such as sitting, crawling, and walking.<\/li>\n<li>The degree of motor skill delay can vary, and some individuals may never attain certain motor milestones.<\/li>\n<\/ul>\n<\/li>\n<li>Degenerative impact on bones:\n<ul>\n<li>Prolonged muscle weakness and reduced mobility can have a degenerative impact on bones, leading to joint contractures and skeletal deformities.<\/li>\n<\/ul>\n<\/li>\n<li>Respiratory complications:\n<ul>\n<li>The weakening of respiratory muscles, including the diaphragm, can have an impact.<\/li>\n<li>Patients may experience shortness of breath, respiratory infections, and in severe cases, respiratory failure.<\/li>\n<\/ul>\n<\/li>\n<li>Cardiac involvement:\n<ul>\n<li>In some cases, Pompe disease can affect the heart muscles, leading to complications.<\/li>\n<li>Symptoms such as heart palpitations, fatigue, and chest pain, may manifest.<\/li>\n<\/ul>\n<\/li>\n<li>Hypertrophic cardiomyopathy:\n<ul>\n<li>Pompe disease can cause hypertrophic cardiomyopathy, characterised by the thickening of the heart muscle walls.<\/li>\n<li>This can lead to impaired heart functions and cardiovascular symptoms.<\/li>\n<\/ul>\n<\/li>\n<li>Implications for daily living:\n<ul>\n<li>Patients may face challenges in performing daily activities independently due to muscle weakness and respiratory limitations.<\/li>\n<li>Assistive devices such as wheelchairs and respiratory support equipment may become necessary.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<h2>How is Pompe disease diagnosed?<\/h2>\n<ul>\n<li>It involves a multi-faceted approach.<\/li>\n<li>Enzyme assays are conducted to measure the activity of acid alpha-glucosidase (GAA), the deficient enzyme.\n<ul>\n<li>Enzyme tests, often performed on blood or skin cells, provide crucial insights into GAA deficiency.<\/li>\n<\/ul>\n<\/li>\n<li>Genetic testing identifies mutations in the responsible GAA gene.\n<ul>\n<li>Genetic analysis confirms the presence of specific mutations associated with Pompe Disease.<\/li>\n<\/ul>\n<\/li>\n<li>The combination of these diagnostic tools enables healthcare professionals to accurately identify and confirm the disease.<\/li>\n<\/ul>\n<h2>Is Pompe disease curable?<\/h2>\n<ul>\n<li>While there is currently no cure, there are treatment options available to manage symptoms and improve the patient\u2019s quality of life.<\/li>\n<li>Enzyme Replacement Therapy (ERT) is a standard treatment, involving the infusion of the missing enzyme to alleviate glycogen buildup.\n<ul>\n<li>ERT is a medical treatment that replaces a missing or deficient enzyme in the body.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<hr \/>\n<h3>Q1)\u00a0What is Glycogen storage disease type II (GSD2)?<\/h3>\n<p>Glycogen storage disease type II (GSD2), also known as Pompe disease, is a metabolic disorder that causes glycogen to build up in muscle tissue. It&#8217;s caused by a deficiency of the enzyme \u03b1-glucosidase.<\/p>\n<h3>Q2) What is Alpha-glucosidase?<\/h3>\n<p>Alpha-glucosidase is an enzyme that breaks down carbohydrates into monosaccharides, which can then be absorbed by the small intestine. It&#8217;s located in the brush border of the small intestine.<\/p>\n<hr \/>\n<p><strong>Source:<\/strong> <a href=\"https:\/\/indianexpress.com\/article\/explained\/explained-health\/pompe-disease-symptoms-cure-diagnosis-explained-9058436\/\" target=\"_blank\" rel=\"nofollow noopener\"><u>India\u2019s first Pompe disease patient passes away: What is this rare genetic disorder?<\/u><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Current affairs for Mains revision, UPSC Current Affairs, daily current affairs, current affairs pdf, Pompe disease, Nidhi Shirol, alpha-glucosidase, Glycogen Storage Disease Type II, Enzyme assays, Genetic testing, Enzyme Replacement Therapy, ERT  <\/p>\n","protected":false},"author":5,"featured_media":38513,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[18],"tags":[],"class_list":{"0":"post-38512","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-upsc-mains-current-affairs","8":"no-featured-image-padding"},"acf":[],"_links":{"self":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/38512","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=38512"}],"version-history":[{"count":0,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/38512\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media\/38513"}],"wp:attachment":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media?parent=38512"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/categories?post=38512"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/tags?post=38512"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}