Journal
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
Volume 46, Issue 3, Pages 312-315Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPG.0b013e318145a8e5
Keywords
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; liver failure; genotype-phenotype
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We report on two Aboriginal patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Both presented with acute hepatic failure with severe hyper-transaminasemia and coagulopathy, prompting evaluation for emergent liver transplantation. The diagnosis of HHH syndrome was based on the presence of typical metabolic abnormalities. A protein-restricted diet and L-arginine or L-citrulline supplementation were immediately started, with rapid normalization of liver function test results and other biochemical abnormalities. Molecular analysis of the SLC25A15 gene showed that the two patients were homozygous for the common French Canadian mutation (F188 Delta). The diagnosis of HHH syndrome should be considered in patients with unexplained fulminant hepatic failure. There does not appear to be a genotype-phenotype 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.
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