{"id":16054,"date":"2023-10-19T02:35:40","date_gmt":"2023-10-18T21:05:40","guid":{"rendered":"https:\/\/vajiramandravi.com\/current-affairs\/?p=16054"},"modified":"2025-04-03T22:04:07","modified_gmt":"2025-04-03T16:34:07","slug":"niemann-pick-disease","status":"publish","type":"post","link":"https:\/\/vajiramandravi.com\/current-affairs\/niemann-pick-disease\/","title":{"rendered":"Niemann-Pick Disease"},"content":{"rendered":"<h2>About Niemann-Pick Disease:\u00a0<\/h2>\n<ul>\n<li>It is a rare genetic disorder in which\u00a0sphingomyelin accumulates in lysosomes inside cells.<\/li>\n<li>This disease involves\u00a0dysfunctional metabolism of sphingolipids.<\/li>\n<li>The three most commonly recognized forms are Niemann-Pick\u00a0Types A and B and Type C.<\/li>\n<li>This disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs.<\/li>\n<li>People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs.<\/li>\n<li>It\u00a0can occur at any age but mainly affects children.<\/li>\n<li>Causes:\n<ul>\n<li>It is inherited\u00a0in an c pattern, which means both copies of the gene must be defective to cause the disease.<\/li>\n<li>Most often, the\u00a0parents of a child with an autosomal recessive disorder are carriers: they have one copy of the altered gene, but are not affected because the other copy produces the enzyme.<\/li>\n<li>If both parents are carriers, each pregnancy has a 25% chance of producing an affected child.<\/li>\n<\/ul>\n<\/li>\n<li>Symptoms\n<ul>\n<li>Enlargement of the liver and spleen (Hepatosplenomegaly)<\/li>\n<li>Low levels of platelets in the blood(Thrombocytopenia)<\/li>\n<li>Slurring of speech (dysarthria)<\/li>\n<li>Difficulty in swallowing (dysphagia)<\/li>\n<li>Abnormal posturing of the limbs, trunk, and face (dystonia).<\/li>\n<li>Voluntary rapid eye movements (supranuclear gaze palsy).<\/li>\n<li>Gradual loss of intellectual abilities, causing dementia and seizures<\/li>\n<li>Classification<\/li>\n<li>Types A and B: Mutations in the\u00a0SMPD1 Gene cause types A and B.<\/li>\n<li>They produce a deficiency in the activity of the lysosomal enzyme acid sphingomyelinase that breaks down the lipid sphingomyelin.<\/li>\n<\/ul>\n<\/li>\n<li>Types C: Mutations in NPC1 or NPC2 cause Niemann\u2013Pick disease, type C (NPC), which\u00a0affects a protein used to transport lipids. It is the\u00a0most common form\u00a0of the disease including types C1 (95% of type C) and C2.<\/li>\n<li>Treatment:\u00a0No specific treatment is known for type A and B, but symptoms are treated.<\/li>\n<\/ul>\n<hr \/>\n<h3>Q1) What is genetic disorder?<\/h3>\n<p>A genetic disorder is a medical condition caused by abnormalities or mutations in an individual&#8217;s DNA or genes. These mutations can be inherited from one&#8217;s parents or can occur spontaneously during a person&#8217;s lifetime. Genetic disorders can affect various aspects of a person&#8217;s health, including physical and mental development, organ function, and overall well-being.<\/p>\n<p><strong>Source:<\/strong> <a href=\"https:\/\/timesofindia.indiatimes.com\/city\/delhi\/list-niemann-pick-as-rare-disease-parents-of-young-patients-urge-govt\/articleshow\/104539755.cms\" target=\"_blank\" rel=\"nofollow noopener\"><u>List Niemann-Pick as rare disease, parents of young patients urge govt<\/u><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Niemann-Pick Disease is a rare genetic disorder in which sphingomyelin accumulates in lysosomes inside cells.<\/p>\n","protected":false},"author":5,"featured_media":16055,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1],"tags":[],"class_list":{"0":"post-16054","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\/16054","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=16054"}],"version-history":[{"count":0,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/16054\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media\/16055"}],"wp:attachment":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media?parent=16054"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/categories?post=16054"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/tags?post=16054"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}