Metabolic serendipities of expanded newborn screening
Entity
UAM. Departamento de Biología MolecularPublisher
MDPIDate
2020-09-01Citation
10.3390/genes11091018
Genes 11.9 (2020): 1018
ISSN
2073-4425 (online)DOI
10.3390/genes11091018Editor's Version
https://doi.org/10.3390/genes11091018Subjects
Arginase 1; Arginine; Citrulline; Lysine; Ornithine; Thiamine; Carnitine; Biología y Biomedicina / Biología; MedicinaRights
© 2020 by the authorsAbstract
Incidental findings on newborn screening (NBS) are results that are not the target of screening within a given NBS program, but rather are found as a result of the screening and resulting diagnostic workup for that target. These findings may not have an immediate clinical impact on the newborn, but are sometimes an additional benefit of NBS programs and may be considered secondary targets of NBS programs. This work describes four case reports that had incidental findings on the NBS, which eventually led to the diagnosis of another metabolic disease instead of the one that was initially suspected. The first case was a new defect in the cationic amino acid transporter-2 (CAT-2), which was oriented as an arginase-1 deficiency in the newborn. The second case was a maternal glutaric aciduria type 1 (GA-1) that mimicked a carnitine transporter deficiency in the newborn. The third report was a case of lysinuric protein intolerance (LPI), which appeared as high levels of citrulline on the NBS. The fourth case was a mother with homocystinuria that was diagnosed during the biochemical study of vitamin B12 status. All cases provide new or interesting data that will help guide differential diagnosis in the future
Files in this item
Google Scholar:Yahyaoui, Raquel
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Blasco-Alonso, Javier
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Gonzalo Marín, Montserrat
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Benito, Carmen
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Serrano-Nieto, Juliana
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González-Gallego, Inmaculada
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Ruiz-Sala, Pedro
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Pérez González, María Belén
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González-Lamuño, Domingo
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