A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.
Raquel YahyaouiJavier Blasco-AlonsoCarmen BenitoEnrique Rodríguez-GarcíaFernando AndradeLuis Aldámiz-EchevarríaMaría C Muñoz-HernándezAna I VegaCelia Pérez-CerdáMaría L García-MartínBelén PérezPublished in: Journal of inherited metabolic disease (2019)
We identified a novel defect in human CAT-2 due to biallelic pathogenic variants in the SLC7A2 gene. The characteristic biochemical profile includes high plasma and urine arginine, ornithine, and lysine levels. NBS centers should know of this disorder since it can be detected in arginase 1 deficiency screening.