{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:58:55Z","timestamp":1790974735123,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>We report on two Aboriginal patients with the hyperornithinemia\u2010hyperammonemia\u2010homocitrullinuria (HHH) syndrome. Both presented with acute hepatic failure with severe hypertransaminasemia and coagulopathy, prompting evaluation for emergent liver transplantation. The diagnosis of HHH syndrome was based on the presence of typical metabolic abnormalities. A protein\u2010restricted diet and L\u2010arginine or L\u2010citrulline supplementation were immediately started, with rapid normalization of liver function test results and other biochemical abnormalities. Molecular analysis of the <jats:italic>SLC25A15<\/jats:italic> gene showed that the two patients were homozygous for the common French Canadian mutation (F188\u0394). The diagnosis of HHH syndrome should be considered in patients with unexplained fulminant hepatic failure. There does not appear to be a genotype\u2010phenotype correlation for this presentation, inasmuch as the only other reported patient presenting with this picture had two different point mutations. Early identification and prompt treatment of these patients is crucial to avoid liver transplantation and can be life saving.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e318145a8e5","type":"journal-article","created":{"date-parts":[[2009,3,5]],"date-time":"2009-03-05T14:45:23Z","timestamp":1236264323000},"page":"312-315","source":"Crossref","is-referenced-by-count":22,"title":["Hyperornithinemia\u2010Hyperammonemia\u2010Homocitrullinuria Syndrome (HHH) Presenting With Acute Fulminant Hepatic Failure"],"prefix":"10.1002","volume":"46","author":[{"given":"AA","family":"Mhanni","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health University of Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Collison","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health University of Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Seifert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health University of Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DC","family":"Lehotay","sequence":"additional","affiliation":[{"name":"The Provincial Laboratory Saskatchewan Health and University of Saskatchewan Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AH","family":"Sokoro","sequence":"additional","affiliation":[{"name":"The Provincial Laboratory Saskatchewan Health and University of Saskatchewan Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HQ","family":"Huynh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CR","family":"Greenberg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health University of Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,3]]},"reference":[{"key":"e_1_2_5_2_1","unstructured":"Hyperornithinemia\u2010hyperammonemia\u2010homocitrullinuria syndrome. Online Mendelian Inheritance in Man\u2010OMIM Web site.http:\/\/www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?id=238970. Accessed November 1 2007."},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799753"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/9658"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799492"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.5.911"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0120-7"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030085009"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198709000-00025"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1536-4801.1992.tb10776.x"},{"issue":"1","key":"e_1_2_5_11_1","first-page":"31","article-title":"1; High incidence of HHH syndrome in Saskatchewan [abstract]","volume":"25","author":"Lehotay D","year":"2002","journal-title":"J Inher Metab Dis"}],"container-title":["Journal of Pediatric Gastroenterology and Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/MPG.0b013e318145a8e5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T13:15:51Z","timestamp":1705583751000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/MPG.0b013e318145a8e5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1097\/MPG.0b013e318145a8e5"],"URL":"https:\/\/doi.org\/10.1097\/mpg.0b013e318145a8e5","archive":["Portico"],"relation":{},"ISSN":["0277-2116","1536-4801"],"issn-type":[{"value":"0277-2116","type":"print"},{"value":"1536-4801","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3]]}}}