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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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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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Infant, Newborn --- Infant, Newborn, Diseases --- Infant, Newborn. --- Infant, Newborn, Diseases.
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Un couple sur six a besoin d'aide médicale pour mettre en route une grossesse. Heureusement pour eux, la science fait de grands bonds : de la FIV à la transplantation d'utérus, en passant par le don de sperme ou d'ovocytes et par la gestation pour autrui. Et cela ne s'arrête pas là ! Demain, nous cultiverons peut-être des spermatozoïdes et des ovocytes à partir de notre peau. La révolution de la fertilité est à nos portes !La quête du bébé parfait est un livre à la croisée des chemins entre la science, l'éthique et l'expression du profond désir d'enfants de l'être humain. Les auteurs y présentent un aperçu de tous les traitements possibles, entrecoupés des récit de jeunes parents (d'intention). Des scientifiques et philosophes de renommée internationale viennent encore enrichir le débat sociétal. Car la question demeure : jusqu'où allons-nous pour réaliser notre désir d'enfants ?
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