{"id":1373570,"date":"2023-08-15T15:56:21","date_gmt":"2023-08-15T13:56:21","guid":{"rendered":"https:\/\/dev.dnaera.com\/cs\/?p=1373570"},"modified":"2023-09-12T10:49:53","modified_gmt":"2023-09-12T08:49:53","slug":"deficit-mcad","status":"publish","type":"post","link":"https:\/\/dev.dnaera.com\/cs\/blog\/deficit-mcad\/","title":{"rendered":"Deficit MCAD \u2013 jak\u00e9 onemocn\u011bn\u00ed se skr\u00fdv\u00e1 pod touto zkratkou?"},"content":{"rendered":"\n<p><em>O cukrech ve strav\u011b se \u010dasto hovo\u0159\u00ed v negativn\u00edm smyslu. P\u0159esto gluk\u00f3za p\u0159edstavuje pro bu\u0148ky z\u00e1kladn\u00ed zdroj energie. Mohou ji \u0161t\u011bpit a vyu\u017e\u00edvat pro bun\u011b\u010dn\u00e9 procesy, p\u0159\u00edpadn\u011b ji ukl\u00e1dat na pozd\u011bji ve form\u011b z\u00e1sobn\u00edho sacharidu glykogenu. Pokud jsou z\u00e1soby gluk\u00f3zy vy\u010derp\u00e1ny, za\u010dnou bu\u0148ky jako zdroj energie vyu\u017e\u00edvat tuky, konkr\u00e9tn\u011b mastn\u00e9 kyseliny.<\/em><\/p>\n\n\n\n<p><em>Tento popis energetick\u00e9ho metabolismu je samoz\u0159ejm\u011b zna\u010dn\u011b zjednodu\u0161en\u00fd. O tom, jak d\u016fle\u017eit\u00e9 je, aby v\u0161echny jeho kroky fungovaly perfektn\u011b, sv\u011bd\u010d\u00ed nap\u0159\u00edklad existence onemocn\u011bn\u00ed zvan\u00e9ho deficit MCAD. Na\u0161i st\u00e1vaj\u00edc\u00ed z\u00e1kazn\u00edci najdou ve sv\u00fdch v\u00fdsledc\u00edch novou predispozici v kategorii Status p\u0159ena\u0161e\u010de.<\/em><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Co znamen\u00e1 zkratka MCAD?&nbsp;<\/h2>\n\n\n\n<p>Zkratka MCAD ozna\u010duje acylkoenzym A dehydrogen\u00e1zu mastn\u00fdch kyselin se st\u0159edn\u011b dlouh\u00fdm \u0159et\u011bzcem. A\u010dkoli zn\u00ed slo\u017eit\u011b, n\u00e1zev napov\u00edd\u00e1, \u017ee tento enzym hraje d\u016fle\u017eitou roli p\u0159i p\u0159em\u011bn\u011b mastn\u00fdch kyselin na energii. Onemocn\u011bn\u00ed se nej\u010dast\u011bji projevuje u d\u011bt\u00ed ve v\u011bku od 3 do 24 m\u011bs\u00edc\u016f. Pokud d\u00edt\u011b p\u0159ij\u00edm\u00e1 v pravideln\u00fdch intervalech dostatek \u017eivin, nemus\u00ed se zpo\u010d\u00e1tku p\u0159\u00edznaky objevit. Probl\u00e9m v\u0161ak m\u016f\u017ee nastat v p\u0159\u00edpad\u011b del\u0161\u00edho hladov\u011bn\u00ed nebo v situaci, kdy organismus pot\u0159ebuje velk\u00e9 mno\u017estv\u00ed energie. Nap\u0159\u00edklad kdy\u017e t\u011blo bojuje s infekc\u00ed.&nbsp;Tehdy m\u016f\u017ee doj\u00edt u t\u011bchto pacient\u016f k:&nbsp;<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>hypoglyk\u00e9mii (nedostatku gluk\u00f3zy),<\/li>\n\n\n\n<li>\u00fanav\u011b,&nbsp;<\/li>\n\n\n\n<li>letargii,&nbsp;<\/li>\n\n\n\n<li>tr\u00e1vic\u00edm pot\u00ed\u017e\u00edm,&nbsp;<\/li>\n\n\n\n<li>v nejhor\u0161\u00edm p\u0159\u00edpad\u011b a\u017e ke k\u00f3matu nebo n\u00e1hl\u00e9mu \u00famrt\u00ed.&nbsp;<\/li>\n<\/ul>\n\n\n\n<p><\/p>\n\n\n\n<figure class=\"wp-block-image\"><img decoding=\"async\" src=\"https:\/\/lh3.googleusercontent.com\/dyYai49Ord6P9nPu-r2SlxXG0u0ZQLIQzbCY1FWbu3aBqAyewCkaZD9qNcLvGZABE5QDr9OvW874hHz09nQf8u2iTCaEMCPnk7pE3ihNsBxnnuTNAzafSsVboBTLv5N8Y6DoCEZ2qlJlbA9Es7DayNo\" alt=\"\"\/><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\">Jak vznik\u00e1 deficit MCAD?&nbsp;<\/h2>\n\n\n\n<p>Vznik tohoto onemocn\u011bn\u00ed je podm\u00edn\u011bn d\u011bdi\u010dn\u011b a d\u011bd\u00ed se tzv. autosom\u00e1ln\u011b recesivn\u00edm zp\u016fsobem. K tomu, aby se onemocn\u011bn\u00ed projevilo, mus\u00ed b\u00fdt mutovan\u00e1 verze genu ACADM zd\u011bd\u011bna od obou rodi\u010d\u016f. Pokud m\u00e1 \u010dlov\u011bk ve sv\u00e9 DNA pouze jednu po\u0161kozenou verzi tohoto genu, nemoc se u n\u011bj nerozvine, ale m\u016f\u017ee ji p\u0159en\u00e9st na sv\u00e9 potomky. <strong>Pokud mutaci ve stejn\u00e9m genu nese i druh\u00fd rodi\u010d, existuje 25% \u0161ance, \u017ee d\u00edt\u011b zd\u011bd\u00ed po\u0161kozenou verzi od obou rodi\u010d\u016f, a enzym MCAD u n\u011bj tedy nebude funk\u010dn\u00ed.<\/strong><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Jak\u00e1 je v\u00fdhoda znalosti genetick\u00fdch predispozic?<\/h2>\n\n\n\n<p>Informace o tom, zda jste p\u0159ena\u0161e\u010dem \u010di nikoli, m\u016f\u017ee b\u00fdt nesm\u00edrn\u011b cenn\u00e1 zejm\u00e9na p\u0159i pl\u00e1nov\u00e1n\u00ed rodiny, proto\u017ee p\u0159ena\u0161e\u010dem tohoto onemocn\u011bn\u00ed je a\u017e 1 \u010dlov\u011bk ze 70. Dobrou zpr\u00e1vou je, \u017ee testov\u00e1n\u00ed na toto onemocn\u011bn\u00ed je sou\u010d\u00e1st\u00ed novorozeneck\u00e9ho screeningu. Pokud se nemoc potvrd\u00ed, lze do \u017eivota d\u00edt\u011bte zav\u00e9st opat\u0159en\u00ed, kter\u00e1 zabr\u00e1n\u00ed rozvoji nebezpe\u010dn\u00fdch komplikac\u00ed.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">Nov\u00e1 predispozice je ji\u017e ve va\u0161\u00ed 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?lng=cz\">P\u0159ihlaste se ke sv\u00e9mu \u00fa\u010dtu<\/a> <\/strong>ve webov\u00e9 aplikaci a pod\u00edvejte se na sv\u016fj v\u00fdsledek. Nov\u00e1 predispozice byla automaticky zdarma p\u0159id\u00e1na v\u0161em na\u0161im st\u00e1vaj\u00edc\u00edm z\u00e1kazn\u00edk\u016fm. Budouc\u00ed z\u00e1kazn\u00edci najdou tuto predispozici v <a href=\"https:\/\/dev.dnaera.com\/cs\/produkt\/dna-complex-test\/\">testu DNA Complex<\/a> a <a href=\"https:\/\/dev.dnaera.com\/cs\/produkt\/dna-health-test\/\">testu DNA Health<\/a>. Zn\u00e1t svoje geny m\u00e1 smysl v ka\u017ed\u00e9m v\u011bku. \u010c\u00edm d\u0159\u00edv, t\u00edm l\u00e9pe. Za\u010dn\u011bte objevovat svoji DNA i vy.&nbsp;<\/p>\n\n\n\n<p><strong>Zdroje:<\/strong>&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<\/ol>\n","protected":false},"excerpt":{"rendered":"<p>O cukrech ve strav\u011b se \u010dasto hovo\u0159\u00ed v negativn\u00edm smyslu. P\u0159esto gluk\u00f3za p\u0159edstavuje pro bu\u0148ky z\u00e1kladn\u00ed zdroj energie. Mohou ji \u0161t\u011bpit a vyu\u017e\u00edvat pro bun\u011b\u010dn\u00e9 procesy, p\u0159\u00edpadn\u011b ji ukl\u00e1dat na pozd\u011bji ve form\u011b z\u00e1sobn\u00edho sacharidu glykogenu. Pokud jsou z\u00e1soby gluk\u00f3zy vy\u010derp\u00e1ny, za\u010dnou bu\u0148ky jako zdroj energie vyu\u017e\u00edvat tuky, konkr\u00e9tn\u011b mastn\u00e9 kyseliny. Tento popis energetick\u00e9ho metabolismu [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":1373571,"comment_status":"open","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-1373570","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-sk","tag-dna-analyza","tag-dna-test"],"acf":[],"views":87,"_links":{"self":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1373570","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/comments?post=1373570"}],"version-history":[{"count":5,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1373570\/revisions"}],"predecessor-version":[{"id":1373607,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/posts\/1373570\/revisions\/1373607"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/media\/1373571"}],"wp:attachment":[{"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/media?parent=1373570"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/categories?post=1373570"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/tags?post=1373570"},{"taxonomy":"place-taxonomy","embeddable":true,"href":"https:\/\/dev.dnaera.com\/cs\/wp-json\/wp\/v2\/place-taxonomy?post=1373570"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}