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 Detalle_Publicacion

Metabolic Serendipities of Expanded Newborn Screening

Abstract: 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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Genes (Basel) . 2020 Aug 29;11(9):1018

Editorial: MDPI

 Año de publicación: 2020

Nº de páginas: 10

Tipo de publicación: Artículo de Revista

 DOI: 10.3390/genes11091018

ISSN: 2073-4425

Url de la publicación: https://doi.org/10.3390/genes11091018

Autores/as

YAHYAOUI, RAQUEL

BLASCO ALONSO, JAVIER

GONZALO MARÍN, MONTSERRAT

BENITO, CARMEN

SERRANO NIETO, JULIANA

GONZÁLEZ GALLEGO, INMACULADA

RUIZ SALA, PEDRO

PÉREZ, BELÉN