Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
Abstract 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)/M...
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| Language: | English |
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Wiley
2022-03-01
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| Series: | JIMD Reports |
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| Online Access: | https://doi.org/10.1002/jmd2.12265 |
| _version_ | 1819045177599197184 |
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| author | Álvaro Martín‐Rivada Laura Palomino Pérez Pedro Ruiz‐Sala Rosa Navarrete Ana Cambra Conejero Pilar Quijada Fraile Ana Moráis López Amaya Belanger‐Quintana Elena Martín‐Hernández Marcello Bellusci Elvira Cañedo Villaroya Silvia Chumillas Calzada María Teresa García Silva Ana Bergua Martínez Sinziana Stanescu Mercedes Martínez‐Pardo Casanova Miguel L. F. Ruano Magdalena Ugarte Belén Pérez Consuelo Pedrón‐Giner |
| author_facet | Álvaro Martín‐Rivada Laura Palomino Pérez Pedro Ruiz‐Sala Rosa Navarrete Ana Cambra Conejero Pilar Quijada Fraile Ana Moráis López Amaya Belanger‐Quintana Elena Martín‐Hernández Marcello Bellusci Elvira Cañedo Villaroya Silvia Chumillas Calzada María Teresa García Silva Ana Bergua Martínez Sinziana Stanescu Mercedes Martínez‐Pardo Casanova Miguel L. F. Ruano Magdalena Ugarte Belén Pérez Consuelo Pedrón‐Giner |
| author_sort | Álvaro Martín‐Rivada |
| collection | DOAJ |
| description | Abstract 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). |
| first_indexed | 2024-12-21T10:24:26Z |
| format | Article |
| id | doaj.art-1b8b5ea5967a4cc4a9736f613e6e8269 |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-21T10:24:26Z |
| publishDate | 2022-03-01 |
| publisher | Wiley |
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| series | JIMD Reports |
| spelling | doaj.art-1b8b5ea5967a4cc4a9736f613e6e82692022-12-21T19:07:20ZengWileyJIMD Reports2192-83122022-03-0163214616110.1002/jmd2.12265Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid regionÁlvaro Martín‐Rivada0Laura Palomino Pérez1Pedro Ruiz‐Sala2Rosa Navarrete3Ana Cambra Conejero4Pilar Quijada Fraile5Ana Moráis López6Amaya Belanger‐Quintana7Elena Martín‐Hernández8Marcello Bellusci9Elvira Cañedo Villaroya10Silvia Chumillas Calzada11María Teresa García Silva12Ana Bergua Martínez13Sinziana Stanescu14Mercedes Martínez‐Pardo Casanova15Miguel L. F. Ruano16Magdalena Ugarte17Belén Pérez18Consuelo Pedrón‐Giner19Sección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid SpainSección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid SpainCentro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid SpainCentro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid SpainLaboratorio de Cribado Neonatal de la Comunidad de Madrid Servicio de Bioquímica Clínica, Hospital General Universitario Gregorio Marañón Madrid SpainUnidad de Enfermedades Mitocondriales‐Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid SpainUnidad de Nutrición Infantil y Enfermedades Metabólicas Hospital Universitario La Paz Madrid SpainCentro de Referencia Nacional (CSUR) en Enfermedades Metabólicas Hospital Universitario Ramón y Cajal Madrid SpainUnidad de Enfermedades Mitocondriales‐Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid SpainUnidad de Enfermedades Mitocondriales‐Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid SpainSección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid SpainUnidad de Enfermedades Mitocondriales‐Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid SpainUnidad de Enfermedades Mitocondriales‐Metabólicas Hereditarias Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre Madrid SpainUnidad de Nutrición Infantil y Enfermedades Metabólicas Hospital Universitario La Paz Madrid SpainCentro de Referencia Nacional (CSUR) en Enfermedades Metabólicas Hospital Universitario Ramón y Cajal Madrid SpainCentro de Referencia Nacional (CSUR) en Enfermedades Metabólicas Hospital Universitario Ramón y Cajal Madrid SpainLaboratorio de Cribado Neonatal de la Comunidad de Madrid Servicio de Bioquímica Clínica, Hospital General Universitario Gregorio Marañón Madrid SpainCentro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid SpainCentro de Diagnóstico de Enfermedades Moleculares Universidad Autónoma de Madrid, IdiPAZ, CIBERER Madrid SpainSección de Gastroenterología y Nutrición Hospital Infantil Universitario Niño Jesús Madrid SpainAbstract 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).https://doi.org/10.1002/jmd2.12265inborn error of metabolismneonatal screeningtandem mass spectrometry |
| spellingShingle | Álvaro Martín‐Rivada Laura Palomino Pérez Pedro Ruiz‐Sala Rosa Navarrete Ana Cambra Conejero Pilar Quijada Fraile Ana Moráis López Amaya Belanger‐Quintana Elena Martín‐Hernández Marcello Bellusci Elvira Cañedo Villaroya Silvia Chumillas Calzada María Teresa García Silva Ana Bergua Martínez Sinziana Stanescu Mercedes Martínez‐Pardo Casanova Miguel L. F. Ruano Magdalena Ugarte Belén Pérez Consuelo Pedrón‐Giner Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region JIMD Reports inborn error of metabolism neonatal screening tandem mass spectrometry |
| title | Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region |
| title_full | Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region |
| title_fullStr | Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region |
| title_full_unstemmed | Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region |
| title_short | Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region |
| title_sort | diagnosis of inborn errors of metabolism within the expanded newborn screening in the madrid region |
| topic | inborn error of metabolism neonatal screening tandem mass spectrometry |
| url | https://doi.org/10.1002/jmd2.12265 |
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