Supplementary Table 1 Screening Panels of Countries (Including Research Programs) And
Supplementary Table 1Screening panels of countries (including research programs) and frequency distribution of disorders screened for
Country / (Endo) / (Endo) / (Cys F.) / (AAD) / (AAD) / (AAD) / (AAD) / (AAD) / (AAD) / (AAD) / (AAD) / (AAD) / (AAD) / (OA) / (OA) / (OA) / (OA) / (OA) / (OA) / (OA) / (OA) / (OA) / (OA) / (FAOD) / (FAOD) / (FAOD) / (FAOD) / (FAOD) / (FAOD) / (FAOD) / (FAOD) / (FAOD) / (Hemo) / (Hemo) / (Hemo) / (M) / (M) / (M) / N disorders screened forch / cah / cf / pku/hpa / msud / hci / tyrI / asa / citI / arg / hptI_III / tyrII_III / citII / gaI / iva / mmacbl / pa / 3mcc / gaII / hcsd / 3hmg / bkt / mma / mcadd / vlcadd / lchadd / cptI / cptII / cud / scadd / schadd / decr / s-s / btha / sc / bio / galt / udp
Albania / 0
Austria / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 29
Belgium (Flemish) / X / X / X / X / X / X / X / X / X / X / X / 11
Belgium (French) / X / X2 / X / X / X / X / X / X / 8
Bosnia-Herzegovina / X / X / X / 3
Bulgaria / X / X / X / 3
Croatia / X / X / 2
Cyprus / X / X / 2
Czech Republic / X / X / X / X / X / X / X / X / X / X / X / X / 12
Denmark / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 15
Estonia / X / X / 2
Finland / X / 1
France / X / X / X / X / X / 5
FYROM / X / 1
Germany / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 15
Greece / X / X / X / 3
Hungary / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 25
Iceland / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 26
Ireland / X / X / X / X / X / 5
Italy / X / X2 / X / 3
Kosovo / 0
Latvia / X / X / 2
Lithuania / X / X / 2
Luxembourg / X / X / X / X / 4
Malta / X / X / X / 3
Montenegro / X / 1
Netherlands / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 20
Norway / X / X / 2
Poland / X / X / X / 3
Portugal / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 25
Romania / X / X / 2
Serbia / X / X / 2
Slovakia / X / X / X / X / 4
Slovenia / X / X / 2
Spain / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / X / 27
Sweden / X / X / X / X / X / 5
Switzerland1 / X / X / X / X / X / X / X / 7
Turkey / X / X / X / 3
United Kingdom / X / X / X / X / X / X / X / 7
Frequency / 37 / 15 / 10 / 33 / 12 / 7 / 7 / 6 / 5 / 4 / 3 / 3 / 2 / 10 / 9 / 7 / 7 / 6 / 6 / 6 / 5 / 3 / 1 / 13 / 9 / 8 / 7 / 7 / 6 / 3 / 2 / 0 / 4 / 3 / 3 / 10 / 10 / 3
1 including Liechtenstein
2 Belgium (French) screens for CAH not nationwide; likewise Italy screens for CF but not nationwide
Abbreviations
3hmg3-Hydroxy-3-methylglutaric aciduria; 3mcc3-Methylcrotonyl-CoA carboxylase deficiency/3-Methylglutacon aciduria/2-methyl-3-OH-butyric aciduria; AADDisorders of amino acid metabolism; argArgininemia; asaArgininosuccinic aciduria; bioBiotinidase deficiency; bktBeta-ketothiolase deficiency; bthaS, beta 0-thalassemia; cahCongenital adrenal hyperplasia; cfCystic fibrosis; chPrimary congenital hypothyroidism; citICitrullinemia type I; citIICitrullinemia type II; cpt ICarnitin palmitoyltransferase deficiency type I; cpt II Carnitin palmitoyltransferase type II-/Carnitine acylcarnitine transporter deficiency; cudCarnitine uptake defect; decr2,4-Dienoyl-CoA reductase deficiency; EndoEndocrinopathies; FAODDisorders of fatty acid metabolism; gaIGlutaric acidaemia type I; gaIIGlutaric acidaemia type II; galtClassical galactosaemia; hciHomocystinuria (CBS deficiency); hcsdHolocarboxylase synthetase deficiency; Hemo/ HpBHemoglobinopathies; hpt I, IIIHypermethionemia types I, III; ivaIsovaleric acidemia (IVA)/ 2-Methylbutyrylglycinuria; lchaddLong-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency/Trifunctional protein deficiency; MMiscellaneous disorders; mcaddMedium-chain acyl-CoA dehydrogenase deficiency; mmaMalonic acidaemia; mmacblMethylmalonic acidaemia including Cbl A,B, C, D defects; MSUD Maple sirup urine disease; OADisorders of organic acid metabolism; paPropionic acidaemia; PKU/hpaPhenylketonuria/Hyperphenylalaninaemia; s-sS,S disease (Sickle cell anaemia); scS,C disease (Sickle – C disease); scaddShort-chain acyl-CoA dehydrogenase deficiency; schaddMedium-short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; tyrITyrosinaemia type I; tyrII-IIITyrosinaemia types II, III; udpUDP-galactose-4-epimerase deficiency; vlcaddVery long-chain acyl-CoA dehydrogenase deficiency