2026-05-22T02:49:46Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/181072024-09-21T19:17:00Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927col_20.500.12105_16963

00925njm 22002777a 4500 dc Yahyaoui, Raquel author Blasco-Alonso, Javier author Gonzalo-Marín, Montserrat author Benito, Carmen author Serrano-Nieto, Juliana author González-Gallego, Inmaculada author Ruiz-Sala, Pedro author Pérez, Belén author González-Lamuño, Domingo author 2020-08-29 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. 10.3390/genes11091018 2073-4425 Genes http://hdl.handle.net/10668/16188 32872442 http://hdl.handle.net/20.500.12105/18107 Acylcarnitines Amino acids Dried blood spot (DBS) Hereditary metabolic disorders Inborn errors of metabolism Incidental finding Newborn screening (NBS) Next generation sequencing (NGS) Metabolic Serendipities of Expanded Newborn Screening.