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Newborns with alterations were referred to the clinical centers for follow\u2010up. Biochemical and molecular genetic studies for confirmation of a disease were performed. In the period 2011 to 2019, 592\u2009822 children were screened: 902 of them were referred for abnormal results. An IEM was confirmed in 222 (1\/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR\u20101), 1 TYR\u20103, 4 maple syrup urine disease (MSUD), 2 branched\u2010chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium\u2010chain acyl\u2010CoA dehydrogenase deficiency (MCADD), 13 very long\u2010chain acyl\u2010CoA dehydrogenase deficiency, 2 long\u2010chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl\u2010coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT\u2010II) deficiency, 1 CPT\u2010I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA\u20101), 4 methylmalonic acidemia (MMA), 7\u2009MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3\u2010methylcrotonyl\u2010CoA carboxylase, 1 3\u2010hydroxy\u20103\u2010methylglutaryl\u2010CoA lyase deficiency lyase deficiency. Only 19 infants (8.5%) were symptomatic at newborn screening result (1 LCHADD, 5 PA, 1 CPT\u2010II deficiency, 1\u2009MMA, 3\u2009MMAHC, 2 MSUD, 2 OTC deficiency, 1 CTLN1, 1 MCADD, 2 TYR\u20101). No false negative cases were identified. Genetic diagnosis was conclusive in all biochemically confirmed cases, except for two infants with HPA, identifying pathogenic variants in 32 different genes. The conditions with the highest incidence were HPA (1\/6661) and MCAD deficiencies (1\/13\u2009787).<\/jats:p>","DOI":"10.1002\/jmd2.12265","type":"journal-article","created":{"date-parts":[[2022,1,27]],"date-time":"2022-01-27T10:47:12Z","timestamp":1643280432000},"page":"146-161","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0598-1069","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Mart\u00edn\u2010Rivada","sequence":"first","affiliation":[{"name":"Secci\u00f3n de Gastroenterolog\u00eda y Nutrici\u00f3n Hospital Infantil Universitario Ni\u00f1o Jes\u00fas  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Palomino 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