{"id":1483,"date":"2020-08-07T00:55:25","date_gmt":"2020-08-07T00:55:25","guid":{"rendered":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/treatment-of-genetic-diseases-traditional-therapies\/"},"modified":"2021-01-31T23:30:22","modified_gmt":"2021-01-31T22:30:22","slug":"treatment-of-genetic-diseases-traditional-therapies","status":"publish","type":"page","link":"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/treatment-of-genetic-diseases-traditional-therapies\/","title":{"rendered":"Treatment of Genetic Diseases: Traditional Therapies"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\"><div class=\"intro\">Traditional therapies are those that help to influence and improve the diseased phenotype without directly acting on the gene or its expression.<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>It is effective in about half of the people who take the treatment<\/div><\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">There are six main traditional therapies:<\/p>\n\n\n\n<ol class=\"wp-block-list\"><li>Activation of alternative metabolic pathways<\/li><li>Blood transfusion<\/li><li>Dietary Restriction<\/li><li>Supplementing the missing molecule<\/li><li>Protein Augmentation Therapy<\/li><li>Enzyme Replacement Therapy<\/li><\/ol>\n\n\n<span class=\"block-heading\" id=\"header_1\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Activation of alternative metabolic pathways<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_1\">\n\n\n<ul class=\"wp-block-list\"><li>This is a therapy used to bypass certain metabolic pathways for alternative ones.<\/li><li>It is usually used when the pathogenesis of the disease is due to the accumulation of a certain substance.<\/li><li>For example, in Familial Hypercholesterolemia, the body should be stimulated to use excess cholesterol for bile production instead of storing and depositing it.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_2\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Blood transfusion<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_2\">\n\n\n<ul class=\"wp-block-list\"><li>This is a common therapy that is used to manage hemoglobinopathies.<\/li><li>A suitable matching donor must be found to prevent agglutination <em>(details on agglutination are discussed in the Polymorphisms: Blood Groups: ABO blood groups course)<\/em><\/li><li>Chelating agents such as EDTA should be regularly administered to the patient to prevent iron overload<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_3\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Dietary Restriction<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_3\">\n\n\n<ul class=\"wp-block-list\"><li>This type of treatment is used in classical PKU where the enzyme deficiency causes Phenylalanine to accumulate in the blood.<\/li><li>The treatment for this will be to limit Phenylalanine in the diet to prevent its accumulation.<\/li><li>We can not completely stop the intake of Phenylalanine because it is one of the essential amino acids but in the case of lactose intolerance, where lactose is not essential, we can stop it completely.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_4\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Supplementing the missing molecule<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_4\">\n\n\n<ul class=\"wp-block-list\"><li>In some cases, the enzyme is present and working but the cofactor is not.<\/li><li>The missing molecule can be a hormone or a co-factor i.e in the case of diet-resistant PKU<\/li><li>In diet-resistant PKU caused by lack of BH4, in this case, BH4 will be given to the patients.<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_5\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Protein Augmentation Therapy<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_5\">\n\n\n<ul class=\"wp-block-list\"><li>This is used to replace missing proteins that normally work in the blood or extracellular space.<\/li><li>Due to their extracellular nature, they can be administered orally or intravenously.<\/li><li>An example is giving Alpha-1 antitrypsin to patients who are lacking it<\/li><\/ul>\n\n\n<\/span><span class=\"block-heading\" id=\"header_6\">\n<h4 class=\"wp-block-heading\" class=\"wp-block-heading\" class=\"title_collection title1\">Enzyme Replacement Therapy<\/h4>\n<\/span><span class=\"block-content\" id=\"contents_6\">\n\n\n<ul class=\"wp-block-list\"><li>This is similar to <strong>Protein Augmentation therapy<\/strong> except that in this case, the missing molecule is an intracellular enzyme<\/li><li>It is used for management of lysosomal storage diseases<\/li><\/ul>\n<\/span><div id=\"the_titles\" style=\"display:none;\"><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Activation of alternative metabolic pathways<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Blood transfusion<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Dietary Restriction<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Supplementing the missing molecule<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Protein Augmentation Therapy<\/h4><h4 class=\"wp-block-heading\" class=\"wp-block-heading\">Enzyme Replacement Therapy<\/h4><\/div>","protected":false},"excerpt":{"rendered":"<p>There are six main traditional therapies: Activation of alternative metabolic pathways Blood transfusion Dietary Restriction Supplementing the missing molecule Protein Augmentation Therapy Enzyme Replacement Therapy Activation of alternative metabolic pathways This is a therapy used to bypass certain metabolic pathways for alternative ones. It is usually used when the pathogenesis of the disease is due [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":1450,"menu_order":5,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-1483","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Treatment of Genetic Diseases: Traditional Therapies &#8211; Meddists<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/meddists.com\/learn\/pre-clinical\/medical-genetics\/genetic-diseases\/treatment-of-genetic-diseases-traditional-therapies\/\" \/>\n<meta name=\"twitter:label1\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data1\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/genetic-diseases\\\/treatment-of-genetic-diseases-traditional-therapies\\\/\",\"url\":\"https:\\\/\\\/meddists.com\\\/learn\\\/pre-clinical\\\/medical-genetics\\\/genetic-diseases\\\/treatment-of-genetic-diseases-traditional-therapies\\\/\",\"name\":\"Treatment of Genetic Diseases: Traditional Therapies &#8211; 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