{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T08:57:51Z","timestamp":1758704271756,"version":"3.40.5"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,21]],"date-time":"2019-02-21T00:00:00Z","timestamp":1550707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>We report a patient with a human cationic amino acid transporter 2 (CAT\u20102) defect discovered due to a suspected arginase 1 deficiency observed in newborn screening (NBS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A NBS sample was analyzed using tandem mass spectrometry. Screen results were confirmed by plasma and urine amino acid quantification. Molecular diagnosis was done using clinical exome sequencing. Dimethylated arginines were determined by HPLC and nitrate\/nitrite levels by a colorimetric assay. The metabolomic profile was analyzed using 1D nuclear magnetic resonance spectroscopy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A Spanish boy of nonconsanguineous parents had high arginine levels in a NBS blood sample. Plasma and urinary cationic amino acids were high. Arginase enzyme activity in erythrocytes was normal and no pathogenic mutations were identified in the <jats:italic>ARG1<\/jats:italic> gene. Massive parallel sequencing detected two loss\u2010of\u2010function mutations in the <jats:italic>SLC7A2<\/jats:italic> gene. Currently, the child receives a protein\u2010controlled diet of 1.2 g\/kg\/day with protein\u2010and amino\u2010acid free infant formula, 30\u2009g\/day, and is asymptomatic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified a novel defect in human CAT\u20102 due to biallelic pathogenic variants in the <jats:italic>SLC7A2<\/jats:italic> 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.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12063","type":"journal-article","created":{"date-parts":[[2019,1,24]],"date-time":"2019-01-24T06:55:12Z","timestamp":1548312912000},"page":"407-413","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A new metabolic disorder in human cationic amino acid transporter\u20102 that mimics arginase 1 deficiency in newborn screening"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6789-1563","authenticated-orcid":false,"given":"Raquel","family":"Yahyaoui","sequence":"first","affiliation":[{"name":"Laboratory of Metabolic Disorders and Newborn Screening Center of Eastern Andalusia M\u00e1laga Regional University Hospital  M\u00e1laga Spain"},{"name":"Grupo Endocrinolog\u00eda y Nutrici\u00f3n, Diabetes y Obesidad Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga\u2010IBIMA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Blasco\u2010Alonso","sequence":"additional","affiliation":[{"name":"Department of Pediatrics M\u00e1laga Regional University Hospital  M\u00e1laga Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Benito","sequence":"additional","affiliation":[{"name":"Department of Genetics M\u00e1laga Regional University Hospital  M\u00e1laga Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrique","family":"Rodr\u00edguez\u2010Garc\u00eda","sequence":"additional","affiliation":[{"name":"Grupo Endocrinolog\u00eda y Nutrici\u00f3n, Diabetes y Obesidad Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga\u2010IBIMA"},{"name":"Laboratorios Vircell  SL, Granada Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Andrade","sequence":"additional","affiliation":[{"name":"Metabolomics Platform, Metabolism Group BioCruces Health Research Institute, CIBERER  Barakaldo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Ald\u00e1miz\u2010Echevarr\u00eda","sequence":"additional","affiliation":[{"name":"Metabolomics Platform, Metabolism Group BioCruces Health Research Institute, CIBERER  Barakaldo Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda C.","family":"Mu\u00f1oz\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"BIONAND, Andalusian Center for Nanomedicine and Biotechnology, Junta de Andaluc\u00eda Universidad de M\u00e1laga  M\u00e1laga Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana I.","family":"Vega","sequence":"additional","affiliation":[{"name":"Centro Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Centro de Biolog\u00eda Molecular Universidad Aut\u00f3noma de Madrid, CIBERER, idiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celia","family":"P\u00e9rez\u2010Cerd\u00e1","sequence":"additional","affiliation":[{"name":"Centro Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Centro de Biolog\u00eda Molecular Universidad Aut\u00f3noma de Madrid, CIBERER, idiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda L.","family":"Garc\u00eda\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"BIONAND, Andalusian Center for Nanomedicine and Biotechnology, Junta de Andaluc\u00eda Universidad de M\u00e1laga  M\u00e1laga Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bel\u00e9n","family":"P\u00e9rez","sequence":"additional","affiliation":[{"name":"Centro Diagn\u00f3stico de Enfermedades Moleculares (CEDEM), Centro de Biolog\u00eda Molecular Universidad Aut\u00f3noma de Madrid, CIBERER, idiPAZ  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,2,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/83.2.508S"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19079"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30091"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.003"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1148-2"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.06.025"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00726-015-2032-z"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.2.412"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0606"},{"volume-title":"Arginase Deficiency. 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