{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T23:05:03Z","timestamp":1768431903701,"version":"3.49.0"},"reference-count":41,"publisher":"EDP Sciences","issue":"5","license":[{"start":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T00:00:00Z","timestamp":1621296000000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>Les maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme (MHM) sont un groupe de maladies rares et cliniquement h\u00e9t\u00e9rog\u00e8nes. Le retard diagnostique est fr\u00e9quent, conduisant souvent au d\u00e9c\u00e8s du patient ou \u00e0 de graves s\u00e9quelles. Certaines MHM entra\u00eenent l\u2019accumulation de m\u00e9tabolites interm\u00e9diaires circulant dans le sang, qui sont d\u00e9tectables par une m\u00e9thode commune utilisant la spectrom\u00e9trie de masse en tandem. Cette m\u00e9thode permet la reconnaissance simultan\u00e9e de plusieurs de ces maladies affectant diff\u00e9rentes voies m\u00e9taboliques. En France, le programme de d\u00e9pistage n\u00e9onatal (DNN) des MHM, longtemps limit\u00e9 \u00e0 la ph\u00e9nylc\u00e9tonurie, a r\u00e9cemment \u00e9t\u00e9 \u00e9tendu au d\u00e9ficit en d\u00e9shydrog\u00e9nase des acyl-CoA \u00e0 cha\u00eene moyenne (MCADD). Le rationnel, la m\u00e9thode et l\u2019organisation de ce nouveau DNN sont d\u00e9crits dans cet article. Sept nouvelles MHM (leucinose, homocystinurie, tyrosin\u00e9mie de type I, acidurie glutarique de type I, acidurie isoval\u00e9rique, d\u00e9ficit en d\u00e9shydrog\u00e9nase des hydroxy-acyl-CoA \u00e0 cha\u00eene longue, d\u00e9ficit du transporteur de la carnitine) devraient \u00eatre d\u00e9pist\u00e9es, gr\u00e2ce \u00e0 une prochaine extension du programme de DNN. Des efforts sont n\u00e9cessaires pour mieux comprendre et pr\u00e9voir la signification de chaque test anormal \u00e0 la naissance, diminuer les taux de faux positifs, et d\u00e9velopper les strat\u00e9gies de prise en charge ad\u00e9quates.<\/jats:p>","DOI":"10.1051\/medsci\/2021057","type":"journal-article","created":{"date-parts":[[2021,5,18]],"date-time":"2021-05-18T07:58:06Z","timestamp":1621324686000},"page":"507-518","source":"Crossref","is-referenced-by-count":1,"title":["Les nouvelles maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme du programme fran\u00e7ais de d\u00e9pistage n\u00e9onatal"],"prefix":"10.1051","volume":"37","author":[{"given":"Guy","family":"Touati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magali","family":"Gorce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Oliver-Petit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Brou\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e9r\u00f4me","family":"Ausseil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2021,5,18]]},"reference":[{"key":"R1","unstructured":"Recommandation de la Haute autorit\u00e9 de sant\u00e9. \u00c9valuation de l\u2019extension du d\u00e9pistage n\u00e9onatal \u00e0 une ou plusieurs erreurs inn\u00e9es du m\u00e9tabolisme par spectrom\u00e9trie de masse en tandem. 1er volet: d\u00e9ficit en MCAD. Saint-Denis : HAS, 2011. https:\/\/www.has-sante.fr\/jcms\/c_1069254\/fr\/evaluation-de-l-extension-du-depistage-neonatal-a-une-ou-plusieurs-erreurs-innees-du-metabolisme-par-spectrometrie-de-masse-en-tandem-1er-volet-deficit-en-mcad."},{"key":"R2","unstructured":"Arr\u00eat\u00e9 du 12 novembre 2020 modifiant l\u2019arr\u00eat\u00e9 du 22 f\u00e9vrier 2018 relatif \u00e0 l\u2019organisation du programme national de d\u00e9pistage n\u00e9onatal recourant \u00e0 des examens de biologie m\u00e9dicale. https:\/\/www.legifrance.gouv.fr\/jorf\/id\/JORFTEXT000042521346."},{"key":"R3","unstructured":"Rapport de la Haute autorit\u00e9 de sant\u00e9. D\u00e9pistage n\u00e9onatal : quelles maladies d\u00e9pister ? 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