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Helseeffekt av nyfødtscreening for medfødte stoffskiftesykdommer
Vist, Gunn Elisabeth; Frønsdal, Katrine Bjørnebek; Johansen, Marit; Hofmann, Bjørn; Fretheim, Atle
Rapport fra Kunnskapssenteret 22/2007
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dc.contributor.authorVist, Gunn Elisabeth-
dc.contributor.authorFrønsdal, Katrine Bjørnebek-
dc.contributor.authorJohansen, Marit-
dc.contributor.authorHofmann, Bjørn-
dc.contributor.authorFretheim, Atle-
dc.identifier.citationRapport fra Kunnskapssenteret 22/2007en
dc.description.abstractCurrently in Norway, we screen our newborn for two inherited metabolic disorders: Congenital hypothyroidism (CH) and Phenylketonuria (PKU). There is now a proposal to expand the newborn screening program with an additional 19 inherited metabolic disorders: * Maple syrup urine disease, MSUD * Tyrosinemia type 1 and 2, TH1 and 2 * Homocystinuria, HCU * Propionic acidaemia, PA * Methylmalonyl- CoA mutase deficiency, MMA * Multiple carboxylase deficiency, MCD/ BIOT * Glutaryl-CoA dehydrogenase deficiency, GA1 * Hydroxymethylglutaryl-CoA lyase deficiency, HMG/ 3MGA * 3-Methylcrotonyl-CoA carboxylase deficiency, 3-MCC * 3-Ketothiolase deficiency, BKT * Isovaleric acidaemia, IVA * Medium-chain acyl-CoA dehydrogenase deficiency, MCAD * Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD * Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, LCHAD * Multiple acyl-CoA dehydrogenase deficiency, GA2 * Carnitine transporter defect, CTD * Carnitine palmitoyl transferase deficiency 1 and 2, CPT1 and 2 * Carnitine acylcarnitine translocase deficiency, CACT * Congenial adrenal hyperplasia, CAH These are rare diseases in Norway. The proposed disorders can cause serious morbidity including mortality if left untreated. The majority of these diseases can be treated by customized diets. For 17 of the inherited metabolic disorders, we did not find summarized documentation describing the effect of newborn screening. We found systematic reviews regarding newborn screening for four of the inherited metabolic diseases; PKU, tyrosenemia, MCAD and CAH. Mortality was reported only for MCAD and CAH. The overall quality of the evidence is very low. We do not know what effect to expect from newborn screening for inherited metabolic disorders.en
dc.publisherNorwegian Knowledge Centre for the Health Servicesen
dc.subjectVDP::Teknologi: 500::Medisinsk teknologi: 620en
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Gynekologi og obstetrikk: 756en
dc.subjectVDP::Medisinske Fag: 700::Helsefag: 800::Forebyggende medisin: 804en
dc.subject.meshInfant, Newbornen
dc.subject.meshGenetic Diseases, Inbornen
dc.subject.meshNeonatal Screeningen
dc.subject.meshGovernment Programsen
dc.subject.meshEvidence-Based Medicineen
dc.titleHelseeffekt av nyfødtscreening for medfødte stoffskiftesykdommerno
dc.title.alternativeNewborn screening for inborn errors of metabolismen
dc.typepeer revieweden
dc.contributor.departmentNasjonalt kunnskapssenter for helsetjenestenen
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