{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T19:48:18Z","timestamp":1779911298483,"version":"3.53.1"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,2,1]],"date-time":"2006-02-01T00:00:00Z","timestamp":1138752000000},"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":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a 3\u2010year\u2010old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertransaminasaemia were detected on hospital admission. Severe hepatocellular necrosis with hypertransaminasaemia (aspartate aminotransferase 20 000 UI\/L, alanine aminotransferase 18 400 UI\/L) and coagulopathy (PT &lt; 5%) rapidly developed within few days, prompting evaluation for liver transplantation. A protein\u2010restricted diet and arginine supplementation were immediately started, with a rapid improvement of the patient's neurological conditions and normalization of liver function tests and blood ammonia. The diagnosis of HHH syndrome was based on the presence of the typical metabolic abnormalities. Molecular analysis of the <jats:italic>SLC25A15<\/jats:italic> gene showed that the patient was heterozygous for two novel mutations (G113C and M273K). The diagnosis of HHH syndrome should be considered in patients with fulminant hepatitis\u2010like presentations. Early identification and treatment of these patients can be life\u2010saving and can avoid liver transplantation.<\/jats:p>","DOI":"10.1007\/s10545-006-0120-7","type":"journal-article","created":{"date-parts":[[2006,4,6]],"date-time":"2006-04-06T21:48:10Z","timestamp":1144360090000},"page":"186-189","source":"Crossref","is-referenced-by-count":38,"title":["HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis\u2010like presentation"],"prefix":"10.1002","volume":"29","author":[{"given":"S.","family":"Fecarotta","sequence":"first","affiliation":[{"name":"Department of Pediatrics \u201cFederico II\u201d University Via S Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Parenti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u201cFederico II\u201d University Via S Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Vajro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u201cFederico II\u201d University Via S Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Zuppaldi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u201cFederico II\u201d University Via S Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Della","family":"Casa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u201cFederico II\u201d University Via S Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. T.","family":"Carbone","sequence":"additional","affiliation":[{"name":"Ospedale SS Annunziata Naples"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Correra","sequence":"additional","affiliation":[{"name":"Ospedale SS Annunziata Naples"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Torre","sequence":"additional","affiliation":[{"name":"U.O. Pediatria Ospedali Riuniti Bergamo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Riva","sequence":"additional","affiliation":[{"name":"U.O. Pediatria Ospedali Riuniti Bergamo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Molecular Medicine IRCCS\u2014Children's Hospital Bambino Ges\u00f9 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. M.","family":"Santorelli","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Molecular Medicine IRCCS\u2014Children's Hospital Bambino Ges\u00f9 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Andria","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u201cFederico II\u201d University Via S Pansini 5 Naples 80131 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.5925\/jnsv1954.9.217"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/9658"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/siny.2001.0086"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198709000-00025"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799457"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(81)80121-9"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0344-0338(96)80230-5"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799753"},{"key":"e_1_2_1_10_1","first-page":"31","volume-title":"Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases","author":"Hoffmann GF","year":"1996"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2003.10.017"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.5.911"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030085009"},{"key":"e_1_2_1_14_1","first-page":"431","article-title":"Hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy","volume":"15","author":"Smith L","year":"1992","journal-title":"JPGN"},{"key":"e_1_2_1_15_1","first-page":"1857","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Valle D","year":"2001"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0120-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0120-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:28:10Z","timestamp":1694755690000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0120-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1007\/s10545-006-0120-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0120-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2]]}}}