{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:15:45Z","timestamp":1771002945322,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2003,9,1]],"date-time":"2003-09-01T00:00:00Z","timestamp":1062374400000},"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":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arginase deficiency is a rare, autosomal recessive, disorder of the urea cycle characterized by mild hyperammonaemia, hyperargininaemia, dibasic aminoaciduria and orotic aciduria, associated with progressive spastic tetraplegia, seizures, psychomotor retardation, and growth failure. We report a family who presented with their daughter at 4 years 11 months of age with an acute encephalopathy. Initial laboratory results revealed hyperammonaemia (160 \u00b5mol\/L; normal 0\u201334), hyperargininaemia (512 \u00b5mol\/L; normal 23\u201386) and orotic aciduria. A diagnosis of arginase deficiency was confirmed by enzyme assay, and treatment with a modified protein\u2010restricted diet along with sodium benzoate therapy was initiated. Over time, intellectual development has been normal, but the child developed spasticity in her lower extremities. Subsequently, the mother presented at 6 weeks of pregnancy seeking prenatal diagnosis. Prenatal testing for arginase deficiency has only been reported in one other case. Arginase is not expressed in cultured amniotic fluid cells or chorionic villus samples. Testing for arginase activity assay in red blood cells, isolated by cordocentesis, was performed and predicted an unaffected fetus. The result was confirmed by postnatal enzyme analysis of red cells from the newborn. On the basis of our experience, prenatal diagnosis of arginase deficiency by cord red blood cell arginase activity assay appears possible.<\/jats:p>","DOI":"10.1023\/a:1025964401618","type":"journal-article","created":{"date-parts":[[2003,10,24]],"date-time":"2003-10-24T22:52:54Z","timestamp":1067035974000},"page":"607-610","source":"Crossref","is-referenced-by-count":14,"title":["Prenatal diagnosis for arginase deficiency: A case study"],"prefix":"10.1002","volume":"26","author":[{"given":"S.","family":"Hewson","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children, and the University of Toronto  Toronto Ontario Canada"},{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children  555 University Avenue Toronto ON M5G 1X8 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. T. R.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics The Hospital for Sick Children, and the University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Cederbaum","sequence":"additional","affiliation":[{"name":"Departments of Psychiatry, Pediatrics and Human Genetics and The Mental Retardation Research Center University of California  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(86)80333-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01570732"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(96)01015-0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113923"},{"key":"e_1_2_1_6_1","first-page":"1281","article-title":"Molecular genetic study of human arginase deficiency","volume":"50","author":"Grody WW","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00230212"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.2.412"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114707"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550220"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/14.23.9544"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/20.5.1166-a"},{"key":"e_1_2_1_13_1","first-page":"79","article-title":"Properties of fetal and adult red blood cell arginase: a possible prenatal diagnostic test for arginase deficiency","volume":"32","author":"Spector EB","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198312000-00003"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.18.8789"},{"key":"e_1_2_1_16_1","first-page":"1406","article-title":"Three novel mutations in the liver\u2010type arginase gene in three unrelated Japanese patients with argininaemia","volume":"51","author":"Uchino T","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380040210"},{"key":"e_1_2_1_18_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:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1025964401618","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1025964401618","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:58:34Z","timestamp":1694782714000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1025964401618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,9]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2003,9]]}},"alternative-id":["10.1023\/A:1025964401618"],"URL":"https:\/\/doi.org\/10.1023\/a:1025964401618","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,9]]}}}