{"id":1378431,"date":"2023-08-15T15:48:30","date_gmt":"2023-08-15T13:48:30","guid":{"rendered":"https:\/\/dnaera.com\/ro\/?p=1378431"},"modified":"2023-09-12T09:59:05","modified_gmt":"2023-09-12T07:59:05","slug":"deficit-mcad","status":"publish","type":"post","link":"https:\/\/dnaera.com\/ro\/blog\/deficit-mcad\/","title":{"rendered":"Deficit MCAD &#8211; ak\u00e9 ochorenie sa skr\u00fdva pod touto skratkou?"},"content":{"rendered":"\n<p><em>O cukroch v strave sa \u010dasto hovor\u00ed v negat\u00edvnom zmysle. Napriek tomu gluk\u00f3za predstavuje z\u00e1kladn\u00fd zdroj energie pre bunky. Tie ju dok\u00e1\u017eu \u0161tiepi\u0165 a vyu\u017e\u00edva\u0165 pre bunkov\u00e9 pochody, pr\u00edpadne ju ulo\u017eia na nesk\u00f4r v podobe z\u00e1sobn\u00e9ho sacharidu glykog\u00e9nu. V pr\u00edpade, \u017ee sa z\u00e1soba gluk\u00f3zy minie, bunky za\u010dn\u00fa pou\u017e\u00edva\u0165 ako zdroj energie tuky, konkr\u00e9tne mastn\u00e9 kyseliny.<\/em><\/p>\n\n\n\n<p><em>Tento popis energetick\u00e9ho metabolizmu je samozrejme do zna\u010dnej miery zjednodu\u0161en\u00fd. To, ak\u00e9 d\u00f4le\u017eit\u00e9 je, aby v\u0161etky jeho kroky perfektne fungovali, ukazuje napr\u00edklad existencia ochorenia s n\u00e1zvom deficit MCAD.<\/em> <em>Na\u0161i existuj\u00faci z\u00e1kazn\u00edci si vo svojich v\u00fdsledkoch n\u00e1jdu nov\u00fa predispoz\u00edciu zaraden\u00fa v kateg\u00f3rii Zdravie.<\/em><em>&nbsp;<\/em><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u010co znamen\u00e1 skratka MCAD?&nbsp;<\/h2>\n\n\n\n<p>Skratka MCAD ozna\u010duje enz\u00fdm so slovensk\u00fdm n\u00e1zvom acyl-koenz\u00fdm A dehydrogen\u00e1za mastn\u00fdch kysel\u00edn so stredn\u00fdm re\u0165azcom. Aj napriek tomu \u017ee to znie zlo\u017eito, n\u00e1zov napoved\u00e1, \u017ee tento enz\u00fdm zohr\u00e1va d\u00f4le\u017eit\u00fa \u00falohu v premene mastn\u00fdch kysel\u00edn na energiu. Ochorenie sa naj\u010dastej\u0161ie prejavuje u det\u00ed od 3 do 24 mesiacov. Ak die\u0165a prij\u00edma dostato\u010dn\u00e9 mno\u017estvo \u017eiv\u00edn v pravideln\u00fdch intervaloch, pr\u00edznaky sa spo\u010diatku nemusia objavi\u0165. Probl\u00e9m v\u0161ak m\u00f4\u017ee nasta\u0165 v pr\u00edpade dlh\u0161ieho hladovania, alebo v situ\u00e1cii, ke\u010f organizmus potrebuje ve\u013ek\u00e9 mno\u017estvo energie. Napr\u00edklad ke\u010f telo bojuje s infekciou. Vtedy m\u00f4\u017ee d\u00f4js\u0165 u t\u00fdchto pacientov ku:&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>hypoglyk\u00e9mii (nedostatku gluk\u00f3zy),&nbsp;<\/li>\n\n\n\n<li>\u00fanave,&nbsp;<\/li>\n\n\n\n<li>letargii,&nbsp;<\/li>\n\n\n\n<li>tr\u00e1viacim probl\u00e9mom,&nbsp;<\/li>\n\n\n\n<li>v najhor\u0161om pr\u00edpade a\u017e k upadnutiu do k\u00f3my \u010di n\u00e1hlemu \u00famrtiu.&nbsp;<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh6.googleusercontent.com\/yYmFYoaPHuzL3sdYvzL-LubjhMy5VkGknXo1-F6ZKLnp8F9GYnL4XmTaezNivRgjBqJIvJDzSt8YYdfXmT5OvjVCgN1E3S2K6Km8H8Fsuu6L8_05FTSkEWwyDAhRccVr4jOhcr5s0cL5miKyXx4pD4c\" alt=\"\"\/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Ako vznik\u00e1 deficit MCAD?&nbsp;<\/h2>\n\n\n\n<p>Vznik tohto ochorenia je podmienen\u00fd dedi\u010dne a ded\u00ed sa takzvan\u00fdm autozom\u00e1lne reces\u00edvnym sp\u00f4sobom. Na to, aby sa toto ochorenie prejavilo je potrebn\u00e9 zdedi\u0165 od oboch rodi\u010dov mutovan\u00fa verziu g\u00e9nu ACADM. V pr\u00edpade, \u017ee m\u00e1 \u010dlovek vo svojej DNA iba jednu po\u0161koden\u00fa verziu tohto g\u00e9nu, ochorenie sa u\u0148ho neprejav\u00ed, av\u0161ak dan\u00fd g\u00e9n m\u00f4\u017ee prenies\u0165 na svojich potomkov. <strong>V pr\u00edpade, \u017ee mut\u00e1ciu v rovnakom g\u00e9ne pren\u00e1\u0161a aj druh\u00fd rodi\u010d, existuje 25 % \u0161anca, \u017ee die\u0165a zded\u00ed od oboch rodi\u010dov po\u0161koden\u00fa verziu a teda u\u0148ho enz\u00fdm MCAD nebude funk\u010dn\u00fd.<\/strong>&nbsp;<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Ak\u00e1 je v\u00fdhoda poznania genetickej predispoz\u00edcie?<\/h2>\n\n\n\n<p>Inform\u00e1cia, \u010di ste pren\u00e1\u0161a\u010dom tohto ochorenia, m\u00f4\u017ee by\u0165 nesmierne cenn\u00e1 najm\u00e4 pri pl\u00e1novan\u00ed rodi\u010dovstva, ke\u010f\u017ee a\u017e 1 zo 70 \u013eud\u00ed je pren\u00e1\u0161a\u010dom tohto ochorenia. Dobrou spr\u00e1vou je, \u017ee testovanie na toto ochorenie je s\u00fa\u010das\u0165ou novorodeneck\u00e9ho skr\u00edningu. V pr\u00edpade potvrdenia ochorenia tak m\u00f4\u017eu by\u0165 do \u017eivota die\u0165a\u0165a zaveden\u00e9 kroky, ktor\u00fdmi sa pred\u00edde rozvoju nebezpe\u010dn\u00fdch komplik\u00e1ci\u00ed.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Nov\u00e1 predispoz\u00edcia u\u017e vo va\u0161ej anal\u00fdze<\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/app.dnaera.sk\/report-content\/*\/status-prenasaca\/poruchy-metabolizmu-a-travenia\/METDIG_MCAD_DEF\">Prihl\u00e1ste sa do svojho \u00fa\u010dtu<\/a><\/strong> vo webovej aplik\u00e1cii a pozrite si svoj v\u00fdsledok. Nov\u00e1 predispoz\u00edcia automaticky zdarma pribudla v\u0161etk\u00fdm na\u0161im s\u00fa\u010dasn\u00fdm z\u00e1kazn\u00edkom. Bud\u00faci z\u00e1kazn\u00edci n\u00e1jdu t\u00fato predispoz\u00edciu v <a href=\"https:\/\/dnaera.com\/ro\/produkt\/dna-complex-test\/\">DNA Complex teste<\/a> a <a href=\"https:\/\/dnaera.com\/ro\/produkt\/dna-health-test\/\">DNA Health teste<\/a>. Pozna\u0165 svoje g\u00e9ny m\u00e1 zmysel v ka\u017edom veku. \u010c\u00edm sk\u00f4r, t\u00fdm lep\u0161ie. Za\u010dnite objavova\u0165 svoju DNA aj vy.&nbsp;<\/p>\n\n\n\n<p>Zdroje:&nbsp;<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Merritt 2nd, J. L., &amp; Chang, I. J. (2019). Medium-chain acyl-coenzyme A dehydrogenase deficiency.<\/li>\n\n\n\n<li><a href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/mcad-deficiency\/symptoms-causes\/syc-20353745\">https:\/\/www.mayoclinic.org\/diseases-conditions\/mcad-deficiency\/symptoms-causes\/syc-20353745<\/a><\/li>\n\n\n\n<li>https:\/\/my.clevelandclinic.org\/health\/diseases\/21973-mcad-deficiency#:~:text=MCAD%20deficiency%20occurs%20in%20about,people%20with%20northern%20European%20ancestry<\/li>\n\n\n\n<li><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>O cukroch v strave sa \u010dasto hovor\u00ed v negat\u00edvnom zmysle. Napriek tomu gluk\u00f3za predstavuje z\u00e1kladn\u00fd zdroj energie pre bunky. Tie ju dok\u00e1\u017eu \u0161tiepi\u0165 a vyu\u017e\u00edva\u0165 pre bunkov\u00e9 pochody, pr\u00edpadne ju ulo\u017eia na nesk\u00f4r v podobe z\u00e1sobn\u00e9ho sacharidu glykog\u00e9nu. V pr\u00edpade, \u017ee sa z\u00e1soba gluk\u00f3zy minie, bunky za\u010dn\u00fa pou\u017e\u00edva\u0165 ako zdroj energie tuky, konkr\u00e9tne mastn\u00e9 kyseliny. [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":1378433,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"content-type":"","inline_featured_image":false,"footnotes":""},"categories":[1],"tags":[58,59],"place-taxonomy":[],"class_list":["post-1378431","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test"],"acf":[],"views":745,"_links":{"self":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1378431","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/comments?post=1378431"}],"version-history":[{"count":5,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1378431\/revisions"}],"predecessor-version":[{"id":1378841,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/posts\/1378431\/revisions\/1378841"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media\/1378433"}],"wp:attachment":[{"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/media?parent=1378431"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/categories?post=1378431"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/tags?post=1378431"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dnaera.com\/ro\/wp-json\/wp\/v2\/place-taxonomy?post=1378431"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}