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191026 r ||| eng |
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|a 9788281211858
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1 |
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|a Vist, Gunn E.
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|a Newborn screening for inborn errors of metabolism
|h Elektronische Ressource
|c Gunn E. Vist, Katrine B. Frønsdal, Marit Johansen, Bjørn Hofmann, Atle Fretheim
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| 260 |
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|a Oslo
|b Norwegian Knowledge Centre for the Health Services
|c December 2007, 2007
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| 300 |
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|a 1 PDF file (6 unnumbered pages)
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| 653 |
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|a Infant, Newborn, Diseases / diagnosis
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| 653 |
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|a Neonatal Screening
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| 653 |
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|a Infant, Newborn
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| 653 |
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|a Metabolism, Inborn Errors / diagnosis
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| 653 |
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|a Norway
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| 700 |
1 |
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|a Frønsdal, Katrine B.
|e [author]
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| 700 |
1 |
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|a Johansen, Marit
|e [author]
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| 700 |
1 |
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|a Hofmann, Bjørn
|e [author]
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| 710 |
2 |
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|a Nasjonalt kunnskapssenter for helsetjenesten
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| 041 |
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7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b NCBI
|a National Center for Biotechnology Information
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| 500 |
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|a English summary excerpted from full report in Norwegian: Helseeffekt av nyfødtscreening for medfødte stoffskiftesykdommer. - Excerpt from Systematic reviews no. 22-2007
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| 856 |
4 |
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|u https://www.ncbi.nlm.nih.gov/books/NBK464885
|3 Volltext
|n NLM Bookshelf Books
|3 Volltext
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|a 610
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| 520 |
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|a Currently 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: 1. Maple syrup urine disease, MSUD 2. Tyrosinemia type 1 and 2, TH1 and 2 3. Homocystinuria, HCU 4. Propionic acidaemia, PA 5. Methylmalonyl- CoA mutase deficiency, MMA 6. Multiple carboxylase deficiency, MCD/ BIOT 7. Glutaryl-CoA dehydrogenase deficiency, GA1 8. Hydroxymethylglutaryl-CoA lyase deficiency, HMG/ 3MGA 9. 3-Methylcrotonyl-CoA carboxylase deficiency, 3-MCC 10. 3-Ketothiolase deficiency, BKT 11. Isovaleric acidaemia, IVA 12. Medium-chain acyl-CoA dehydrogenase deficiency, MCAD 13. Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD 14. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, LCHAD 15. Multiple acyl-CoA dehydrogenase deficiency, GA2 16. Carnitine transporter defect, CTD 17. Carnitine palmitoyl transferase deficiency 1 and 2, CPT1 and 2 18. Carnitine acylcarnitine translocase deficiency, CACT 19. 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
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