{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:24:51Z","timestamp":1789597491700,"version":"build-2803163510"},"reference-count":75,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,10,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2022-0340_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA\/MMA\/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2022-0340_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Dried blood samples were collected 48\u00a0h after birth. Amino acids and acylcarnitines were quantitated by MS\/MS. Newborns with alterations were referred to the clinical centers for follow-up. Biochemical and molecular genetic studies for confirmation of a disease were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2022-0340_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In the period 2011\u20132020, 588,793 children were screened, being 953 of them were referred to clinical units for abnormal result (192 for elevated C3 levels). Among them, 88 were false positive cases, 85 maternal vitamin B12 deficiencies and 19 were confirmed to suffer an IEM (8\u00a0PA, 4 MMA, 7 MMAHC). Ten out 19 cases displayed symptoms before the NBS results (6\u00a0PA, 1 MMA, 3 MMAHC). C3, C16:1OH+C17 levels and C3\/C2 and C3\/Met ratios were higher in newborns with PA\/MMA\/MMAHC. Cases diagnosed with B12 deficiency had mean B12 levels of 187.6\u00a0\u00b1\u00a076.9\u00a0pg\/mL and their mothers 213.7\u00a0\u00b1\u00a095.0; 5% of the\u00a0mothers were vegetarian or had poor eating while 15% were diagnosed of pernicious anemia. Newborns and their mothers received treatment with B12 with different posology, normalizing their levels and the secondary alterations disappeared.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2022-0340_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Elevated C3 are a frequent cause for abnormal result in newborn screening with a high rate of false positive cases. Presymptomatic diagnosis of most of PA and some MMA\/MMAHC is difficult. Vitamin B12 deficiency secondary to maternal deprivation is frequent with an heterogenous clinical and biochemical spectrum.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2022-0340","type":"journal-article","created":{"date-parts":[[2022,9,16]],"date-time":"2022-09-16T15:21:47Z","timestamp":1663341707000},"page":"1223-1231","source":"Crossref","is-referenced-by-count":17,"title":["Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0598-1069","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Mart\u00edn-Rivada","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":"Ana","family":"Cambra Conejero","sequence":"additional","affiliation":[{"name":"Laboratorio de Cribado Neonatal de la Comunidad de Madrid , Servicio de Bioqu\u00edmica Cl\u00ednica, Hospital General Universitario GregorioMara\u00f1\u00f3n , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Mart\u00edn-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Mitocondriales-Metab\u00f3licas Hereditarias , Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metab\u00f3licas , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Mor\u00e1is L\u00f3pez","sequence":"additional","affiliation":[{"name":"Unidad de Nutrici\u00f3n Infantil y Enfermedades Metab\u00f3licas , Hospital Universitario La Paz , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaya","family":"B\u00e9langer-Quintana","sequence":"additional","affiliation":[{"name":"Centro de Referencia Nacional (CSUR) en Enfermedades Metab\u00f3licas , Hospital Universitario Ram\u00f3n y Cajal , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elvira","family":"Ca\u00f1edo Villarroya","sequence":"additional","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":"Pilar","family":"Quijada-Fraile","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Mitocondriales-Metab\u00f3licas Hereditarias , Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metab\u00f3licas , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo","family":"Bellusci","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Mitocondriales-Metab\u00f3licas Hereditarias , Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metab\u00f3licas , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Chumillas Calzada","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Mitocondriales-Metab\u00f3licas Hereditarias , Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metab\u00f3licas , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Bergua Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Unidad de Nutrici\u00f3n Infantil y Enfermedades Metab\u00f3licas , Hospital Universitario La Paz , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinziana","family":"Stanescu","sequence":"additional","affiliation":[{"name":"Centro de Referencia Nacional (CSUR) en Enfermedades Metab\u00f3licas , Hospital Universitario Ram\u00f3n y Cajal , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Mart\u00ednez-Pardo Casanova","sequence":"additional","affiliation":[{"name":"Centro de Referencia Nacional (CSUR) en Enfermedades Metab\u00f3licas , Hospital Universitario Ram\u00f3n y Cajal , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Ru\u00edz-Sala","sequence":"additional","affiliation":[{"name":"Centro de Diagn\u00f3stico de Enfermedades Moleculares , Universidad Aut\u00f3noma de Madrid, IdiPAZ, CIBERER , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Ugarte","sequence":"additional","affiliation":[{"name":"Centro de Diagn\u00f3stico de Enfermedades Moleculares , Universidad Aut\u00f3noma de Madrid, IdiPAZ, CIBERER , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bel\u00e9n","family":"P\u00e9rez Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Centro de Diagn\u00f3stico de Enfermedades Moleculares , Universidad Aut\u00f3noma de Madrid, IdiPAZ, CIBERER , Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Consuelo","family":"Pedr\u00f3n-Giner","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Gastroenterolog\u00eda y Nutrici\u00f3n , Hospital Infantil Universitario Ni\u00f1o Jes\u00fas , Madrid , 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Mol Genet Metabol 2006;88:327\u201333. https:\/\/doi.org\/10.1016\/j.ymgme.2006.03.009.","DOI":"10.1016\/j.ymgme.2006.03.009"},{"key":"2023040100332852710_j_jpem-2022-0340_ref_007","doi-asserted-by":"crossref","unstructured":"La Marca, G, Malvagia, S, Casetta, B, Pasquini, E, Donati, MA, Zammarchi, E. Progress in expanded newborn screening formetabolic conditions by LC\u2013MS\/MS in Tuscany: update on methods to reduce false tests. J Inherit Metab Dis 2008;31:S395\u2013404 https:\/\/doi.org\/10.1007\/s10545-008-0965-z.","DOI":"10.1007\/s10545-008-0965-z"},{"key":"2023040100332852710_j_jpem-2022-0340_ref_008","doi-asserted-by":"crossref","unstructured":"Whitehead, VM. Acquired and inherited disorders of cobalamin and folatein children. 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