{"id":7283,"date":"2014-05-30T22:11:14","date_gmt":"2014-05-30T20:11:14","guid":{"rendered":"http:\/\/medrazgl.si\/?p=7283"},"modified":"2014-06-02T22:41:38","modified_gmt":"2014-06-02T20:41:38","slug":"inborn-errors-of-metabolism-in-neonatal-period","status":"publish","type":"post","link":"https:\/\/medrazgl.si\/en\/inborn-errors-of-metabolism-in-neonatal-period\/","title":{"rendered":"Inborn Errors of Metabolism in Neonatal Period"},"content":{"rendered":"

Inborn errors of metabolism must always be considered in the differential diagnosis of an\u00a0acutely ill newborn when there is no obvious alternative diagnosis. In addition to a thorough\u00a0assessment of the medical history and clinical examination of the patient, the diagnosis requires\u00a0specialised diagnostic testing, including biochemical and molecular tests. The basic diagnostic\u00a0tests of blood (full blood counts, electrolytes, glucose, acid-base status, creatine kinase, triglycerides,\u00a0lactate and ammonia), as well as of urine (urine dipstick test for glucose, protein and\u00a0ketone bodies) will provide a first impression as to whether an inborn error of metabolism\u00a0may be likely. If such a disorder is suspected, specific metabolic testing should be initiated.\u00a0Metabolic diseases affect approximately 1% of all newborns in total (i.e. 200 in Slovenia). Most\u00a0of them remain unrecognised during the neonatal period. A normal result of a screening programme\u00a0for newborns does not preclude the diagnosis of an inborn error of metabolism,\u00a0because one can only screen for a limited number of inborn errors of metabolism.<\/p>\n","protected":false},"excerpt":{"rendered":"

Inborn errors of metabolism must always be considered in the differential diagnosis of an\u00a0acutely ill newborn when there is no obvious alternative diagnosis. In addition to a thorough\u00a0assessment of the medical history and clinical examination of the patient, the diagnosis requires\u00a0specialised diagnostic testing, including biochemical and molecular tests. The basic diagnostic\u00a0tests of blood (full blood […]<\/p>\n","protected":false},"author":43,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[398,441],"tags":[],"class_list":["post-7283","post","type-post","status-publish","format-standard","hentry","category-1-2012-archive","category-pediatrics"],"acf":[],"yoast_head":"\nInborn Errors of Metabolism in Neonatal Period - Dru\u0161tvo Medicinski razgledi<\/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:\/\/medrazgl.si\/prirojene-motnje-presnove-v-obdobju-novorojencka\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Inborn Errors of Metabolism in Neonatal Period - Dru\u0161tvo Medicinski razgledi\" \/>\n<meta property=\"og:description\" content=\"Inborn errors of metabolism must always be considered in the differential diagnosis of an\u00a0acutely ill newborn when there is no obvious alternative diagnosis. In addition to a thorough\u00a0assessment of the medical history and clinical examination of the patient, the diagnosis requires\u00a0specialised diagnostic testing, including biochemical and molecular tests. 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