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1. Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

Author

Merinero, B., Alcaide, P., Martín-Hernández, E., Morais, A., García-Silva, M. T., Quijada-Fraile, P., Pedrón-Giner, C., Dulin, E., Yahyaoui, R., Egea, J. M., Belanger-Quintana, A., Blasco-Alonso, J., Fernandez Ruano, M. L., Besga, B., Ferrer-López, I., Leal, F., Ugarte, M., Ruiz-Sala, P., Pérez, B., Pérez-Cerdá, C., Morava, Eva, editor, Baumgartner, Matthias, editor, Patterson, Marc, editor, Rahman, Shamima, editor, Zschocke, Johannes, editor, and Peters, Verena, editor

Published
2018
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2. Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

Author

Merinero, B, Alcaide, P, Martín-Hernández, E, Morais, A, García-Silva, M T, Quijada-Fraile, P, Pedrón-Giner, C, Dulin, E, Yahyaoui, R, Egea, J M, Belanger-Quintana, A, Blasco-Alonso, J, Fernandez Ruano, M L, Besga, B, Ferrer-López, I, Leal, F, Ugarte, M, Ruiz-Sala, P, Pérez, B, and Pérez-Cerdá, C

Subjects
Newborn screening, lipids (amino acids, peptides, and proteins), ACADVL mutations, Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD enzyme activity
Abstract

Identification of very long-chain acyl-CoA dehydrogenase deficiency is possible in the expanded newborn screening (NBS) due to the increase in tetradecenoylcarnitine (C14:1) and in the C14:1/C2, C14:1/C16, C14:1/C12:1 ratios detected in dried blood spots. Nevertheless, different confirmatory tests must be performed to confirm the final diagnosis. We have revised the NBS results and the results of the confirmatory tests (plasma acylcarnitine profiles, molecular findings, and lymphocytes VLCAD activity) for 36 cases detected in three Spanish NBS centers during 4 years, correlating these with the clinical outcome and treatment. Our aim was to distinguish unambiguously true cases from disease carriers in order to obtain useful diagnostic information for clinicians that can be applied in the follow-up of neonates identified by NBS.Increases in C14:1 and of the different ratios, the presence of two pathogenic mutations, and deficient enzyme activity in lymphocytes (

Published
2018

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