{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T09:47:39Z","timestamp":1764841659564},"reference-count":21,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2011,1,13]],"date-time":"2011-01-13T00:00:00Z","timestamp":1294876800000},"content-version":"vor","delay-in-days":43,"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversion of arginine to urea and ornithine. This condition typically presents in early childhood (between 2 and 4 years of age) with developmental delay associated with progressive spastic paraparesis. Neonatal presentation is very uncommon with a poorly described outcome. Here, we discuss two cases of neonatal cholestasis as initial clinical presentation of hyperargininemia. In case 1, diagnosis was established at 2 months of age upon investigation of the etiology of cholestatic injury pattern and hepatosplenomegaly, and treatment was then initiated at when the patient was 3 months old. Unfortunately, the patient had progressive biliary cirrhosis to end\u2010stage liver disease complicated with portal hypertension for which she underwent successful orthotopic liver transplant at 7 years of age. In case 2, hyperargininemia was identified through newborn screening and treatment was started when patient was 21 days old. Cholestasis was only identified in the patient's further evaluation and it resolved 2 weeks into treatment. The patient is currently 18 months old and her development and neurological examination remain unremarkable. Neonatal cholestasis as first presentation of hyperargininemia is rare, but this disorder should be included in the differential diagnosis of unexplained cholestasis in the neonate. In fact, these two cases suggest that arginase deficiency may be the cause of cholestatic liver disease.<\/jats:p>","DOI":"10.1007\/s10545-010-9263-7","type":"journal-article","created":{"date-parts":[[2011,1,12]],"date-time":"2011-01-12T11:04:26Z","timestamp":1294830266000},"page":"503-506","source":"Crossref","is-referenced-by-count":20,"title":["Neonatal cholestasis: an uncommon presentation of hyperargininemia"],"prefix":"10.1002","volume":"33","author":[{"given":"Esmeralda","family":"Gomes Martins","sequence":"first","affiliation":[{"name":"Metabolic Unit Hospital de Crian\u00e7as Maria Pia Rua da Boavista 827 Porto 4050\u2010111 Portugal"}]},{"given":"Ermelinda","family":"Santos Silva","sequence":"additional","affiliation":[{"name":"Gastroenterology Unit Hospital de Crian\u00e7as Maria Pia Rua da Boavista 827 Porto 4050\u2010111 Portugal"}]},{"given":"Silvia","family":"Vilarinho","sequence":"additional","affiliation":[{"name":"Department of Medicine Yale University School of Medicine New Haven CT 06520 USA"}]},{"given":"Jean Marie","family":"Saudubray","sequence":"additional","affiliation":[{"name":"Neuro Metabolic Unit, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux Hopital La Piti\u00e9 Salp\u00e9tri\u00e8re Paris France"}]},{"given":"Laura","family":"Vilarinho","sequence":"additional","affiliation":[{"name":"Newborn Screening Unit National Institute of Health INSA Pra\u00e7a Pedro Nunes 88 Porto 4090\u2010028 Portugal"}]}],"member":"311","published-online":{"date-parts":[[2011,1,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/134.10.2760S"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199702000-00018"},{"key":"e_1_2_4_4_1","volume-title":"Metabolic and molecular bases of inherited disease","author":"Brusilow 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