دورية أكاديمية
Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.
| العنوان: | Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias. |
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| المؤلفون: | Elola Pastor AI; Centro de Salud Mieres-Sur, Mieres. Asturias, Spain. Electronic address: anaisabel.elola@sespa.es., Prieto García B; Unidad de Bioquímica Clínica, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Díaz Martín JJ; Sección de Gastroenterología y Nutrición Pediátrica, Hospital Universitario Central de Asturias, Universidad de Oviedo, Oviedo, Asturias, Spain. |
| المصدر: | Anales de pediatria [An Pediatr (Engl Ed)] 2024 May; Vol. 100 (5), pp. 318-324. Date of Electronic Publication: 2024 May 06. |
| نوع المنشور: | Journal Article; Observational Study |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879 (Electronic) Linking ISSN: 23412879 NLM ISO Abbreviation: An Pediatr (Engl Ed) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Barcelona] : Elsevier |
| مواضيع طبية MeSH: | Neonatal Screening*/methods , Glutaryl-CoA Dehydrogenase*/deficiency , Amino Acid Metabolism, Inborn Errors*/diagnosis , Brain Diseases, Metabolic*/diagnosis, Humans ; Infant, Newborn ; Retrospective Studies ; Male ; Female ; Tandem Mass Spectrometry ; Glutarates/blood ; Gestational Age ; Carnitine/analogs & derivatives |
| مستخلص: | Introduction: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015-2019) of the AGA1 neonatal screening programme in our autonomous community. Material: . We conducted an observational, descriptive and retrospective study. All neonates born between January 1, 2015 and December 31, 2019 that participated in the neonatal screening programme were included in the study. The glutarylcarnitine (C5DC) concentration in dry blood spot samples was measured by means of tandem mass spectrometry applying a cut-off point of 0.25 µmol/L. Results: . A total of 30 120 newborns underwent screening. We found differences in the C5DC concentration based on gestational age, type of feeding and hours of life at sample collection. These differences were not relevant for screening purposes. There were no differences between neonates with weights smaller and greater than 1500 g. Screening identified 2 affected patients and there were 3 false positives. There were no false negatives. The diagnosis was confirmed by genetic testing. Patients have been in treatment since diagnosis and have not developed encephalopathic crises in the first 4 years of life. Conclusions: . Screening allowed early diagnosis of two cases of GA-1 in the first 5 years since its introduction in our autonomous community. Although there were differences in C5DC levels based on gestational age, type of feeding and hours of life at blood extraction, they were not relevant for screening. (Copyright © 2024 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Aciduria glutárica tipo 1; Amino acid metabolism; Biomarcadores; Biomarkers; Cribado neonatal; Dehydrogenase; Deshidrogenasa; Errores innatos; Espectrometría de masas en tandem; Glutaric acidaemia I; Glutaril-CoA; Inborn errors; Mass spectrometry; Metabolism; Metabolismo; Metabolismo de aminoácidos; Neonatal screening; Newborn; Recién nacido; glutaryl-CoA |
| المشرفين على المادة: | 0 (glutarylcarnitine) |
| SCR Disease Name: | Glutaric Acidemia I |
| تواريخ الأحداث: | Date Created: 20240507 Date Completed: 20240519 Latest Revision: 20240519 |
| رمز التحديث: | 20240520 |
| DOI: | 10.1016/j.anpede.2024.04.011 |
| PMID: | 38714461 |
| قاعدة البيانات: | MEDLINE |
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Full Text Finder | تدمد: | 2341-2879 |
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| DOI: | 10.1016/j.anpede.2024.04.011 |