{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T10:56:52Z","timestamp":1784631412654,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,5,27]],"date-time":"2009-05-27T00:00:00Z","timestamp":1243382400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Newborn screening makes possible the early identification and treatment of asymptomatic ARG1\u2010deficient patients; however, it is unknown whether early intervention prevents neurological insults. We identified a full\u2010term Hispanic male infant with argininaemia by newborn screening with a serum arginine of 327 \u00b5mol\/L (reference values 0\u2013140); ARG1 was undetectable on enzyme assay. Sequence analysis of <jats:italic>ARG1<\/jats:italic> revealed a heterozygous nonsense mutation, c.223A&gt;T (p.K75X), and a novel heterozygous missense variant, c.425G&gt;A (p.G142E). Dietary protein restriction began from age 3 months, with addition of sodium benzoate at 4 months, and carnitine from 14 months. For the past 6 years, his serum arginine concentrations were maintained between 268 and 763 \u00b5mol\/L (reference values 10\u2013140). He has normal development without spastic paraplegia, but with mild hepatomegaly and stable hepatic dysfunction. A full neurodevelopmental assessment was conducted at age 5 years. The BASC\u20102 rated the patient's behaviours as age\u2010appropriate. The Leiter\u2010R assessed his \u2018Fundamental Visualization\u2019, \u2018Sequential Order\u2019, and \u2018Picture Concept\u2019 at \u2018Average\u2019, \u2018Form Completion\u2019 and \u2018Matching\u2019 at \u2018Low Average\u2019, and \u2018Figure Ground\u2019 and \u2018Repeated Patterns\u2019 in the \u2018Deficit\u2019 range. The full\u2010scale IQ and the functioning ability presented in the \u2018Borderline\u2019 range and in the \u2018Low Average\u2019 range, respectively. The VABS\/Survey \u2013 Spanish Version showed difficulty in receptive and written language and fine and gross motor skills, and his performance to be at younger than his chronological age. The Short Sensory Profile showed some difficulty with taste and smell sensitivity. Long\u2010term observation over 6 years in a patient with early treated argininaemia shows promising neurodevelopmental results.<\/jats:p>","DOI":"10.1007\/s10545-009-1148-2","type":"journal-article","created":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T19:26:00Z","timestamp":1246044360000},"page":"197-200","source":"Crossref","is-referenced-by-count":15,"title":["Long\u2010term neurodevelopmental effects of early detection and treatment in a 6\u2010year\u2010old patient with argininaemia diagnosed by newborn screening"],"prefix":"10.1002","volume":"32","author":[{"given":"R. L.","family":"Edwards","sequence":"first","affiliation":[{"name":"Genetics Division, Department of Pediatrics, LAC+USC Medical Center University of Southern California 1801 Marengo Street, General Laboratory Building California CA 90033 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Moseley","sequence":"additional","affiliation":[{"name":"Genetics Division, Department of Pediatrics, LAC+USC Medical Center University of Southern California 1801 Marengo Street, General Laboratory Building California CA 90033 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Medical Genetics, Pediatrics Kurume University Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. J.","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor University Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Ottina","sequence":"additional","affiliation":[{"name":"Genetics Division, Department of Pediatrics, LAC+USC Medical Center University of Southern California 1801 Marengo Street, General Laboratory Building California CA 90033 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Yano","sequence":"additional","affiliation":[{"name":"Genetics Division, Department of Pediatrics, LAC+USC Medical Center University of Southern California 1801 Marengo Street, General Laboratory Building California CA 90033 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,5,27]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"1909","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Brusilow SW","year":"2001"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.10.012"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025964401618"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80082-7"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7793.2001.0283f.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210403"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/bmme.1996.0063"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1148-2","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1148-2","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1148-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:17:37Z","timestamp":1694747857000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1148-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,27]]},"references-count":7,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-1148-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1148-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,27]]}}}