Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Autor: Martín-Rivada Á; Sección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid Spain., Palomino Pérez L; Sección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid Spain., Ruiz-Sala P; Centro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid Spain., Navarrete R; Centro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid Spain., Cambra Conejero A; Laboratorio de Cribado Neonatal de la Comunidad de Madrid Servicio de Bioquímica Clínica, Hospital General Universitario Gregorio Marañón Madrid Spain., Quijada Fraile P; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid Spain., Moráis López A; Unidad de Nutrición Infantil y Enfermedades Metabólicas Hospital Universitario La Paz Madrid Spain., Belanger-Quintana A; Centro de Referencia Nacional (CSUR) en Enfermedades Metabólicas Hospital Universitario Ramón y Cajal Madrid Spain., Martín-Hernández E; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid Spain., Bellusci M; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid Spain., Cañedo Villaroya E; Sección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid Spain., Chumillas Calzada S; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid Spain., García Silva MT; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid Spain., Bergua Martínez A; Unidad de Nutrición Infantil y Enfermedades Metabólicas Hospital Universitario La Paz Madrid Spain., Stanescu S; Centro de Referencia Nacional (CSUR) en Enfermedades Metabólicas Hospital Universitario Ramón y Cajal Madrid Spain., Martínez-Pardo Casanova M; Centro de Referencia Nacional (CSUR) en Enfermedades Metabólicas Hospital Universitario Ramón y Cajal Madrid Spain., Ruano MLF; Laboratorio de Cribado Neonatal de la Comunidad de Madrid Servicio de Bioquímica Clínica, Hospital General Universitario Gregorio Marañón Madrid Spain., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid Spain., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid Spain., Pedrón-Giner C; Sección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid Spain.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2022 Jan 27; Vol. 63 (2), pp. 146-161. Date of Electronic Publication: 2022 Jan 27 (Print Publication: 2022).
DOI: 10.1002/jmd2.12265
Abstrakt: We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (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. In the period 2011 to 2019, 592 822 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-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 13 very long-chain acyl-CoA dehydrogenase deficiency, 2 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl-coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT-II) deficiency, 1 CPT-I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA-1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3-methylcrotonyl-CoA carboxylase, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency lyase deficiency. Only 19 infants (8.5%) were symptomatic at newborn screening result (1 LCHADD, 5 PA, 1 CPT-II deficiency, 1 MMA, 3 MMAHC, 2 MSUD, 2 OTC deficiency, 1 CTLN1, 1 MCADD, 2 TYR-1). 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 (1/13 787).
Competing Interests: The authors declare no potential conflict of interest.
(© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
Externí odkaz: