Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

Autor:	Martín-Rivada Á; Sección de Gastroenterología y Nutrición, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Cambra Conejero A; Laboratorio de Cribado Neonatal de la Comunidad de Madrid, Servicio de Bioquímica Clínica, Hospital General Universitario GregorioMarañón, Madrid, Spain., Martín-Hernández E; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Madrid, Spain., Moráis López A; Unidad de Nutrición Infantil y Enfermedades Metabólicas, Hospital Universitario La Paz, Madrid, Spain., Bélanger-Quintana A; Centro de Referencia Nacional (CSUR) en Enfermedades Metabólicas, Hospital Universitario Ramón y Cajal, Madrid, Spain., Cañedo Villarroya E; Sección de Gastroenterología y Nutrición, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Quijada-Fraile P; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Madrid, Spain., Bellusci M; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Madrid, Spain., Chumillas Calzada S; Unidad de Enfermedades Mitocondriales-Metabólicas Hereditarias, Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, 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., Ruíz-Sala P; Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, Madrid, Spain., Ugarte M; Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, Madrid, Spain., Pérez González 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:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Sep 19; Vol. 35 (10), pp. 1223-1231. Date of Electronic Publication: 2022 Sep 19 (Print Publication: 2022).
DOI:	10.1515/jpem-2022-0340
Abstrakt:	Objectives: 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. Methods: Dried blood samples were collected 48 h 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. Results: In the period 2011-2020, 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 PA, 4 MMA, 7 MMAHC). Ten out 19 cases displayed symptoms before the NBS results (6 PA, 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 ± 76.9 pg/mL and their mothers 213.7 ± 95.0; 5% of the mothers 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. Conclusions: 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. (© 2022 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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