caa a22 4500 467932352 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0120-7 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0120-7 HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation [Elektronische Daten] [S. Fecarotta, G. Parenti, P. Vajro, A. Zuppaldi, R. Casa, M. Carbone, A. Correra, G. Torre, S. Riva, C. Dionisi-Vici, F. Santorelli, G. Andria] Summary: We report a 3-year-old 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 < 5%) rapidly developed within few days, prompting evaluation for liver transplantation. A protein-restricted 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 SLC25A15 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-like presentations. Early identification and treatment of these patients can be life-saving and can avoid liver transplantation. SSIEM and Springer, 2006 Fecarotta S. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut Parenti G. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut Vajro P. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut Zuppaldi A. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut Casa R. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut Carbone M. Ospedale SS Annunziata, Naples aut Correra A. Ospedale SS Annunziata, Naples aut Torre G. U.O. Pediatria, Ospedali Riuniti, Bergamo aut Riva S. U.O. Pediatria, Ospedali Riuniti, Bergamo aut Dionisi-Vici C. Division of Metabolism and Molecular Medicine, IRCCS—Children's Hospital Bambino Gesù, Rome, Italy aut Santorelli F. Division of Metabolism and Molecular Medicine, IRCCS—Children's Hospital Bambino Gesù, Rome, Italy aut Andria G. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 186-189 0141-8955 29:1<186 2006 29 10545 https://doi.org/10.1007/s10545-006-0120-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0120-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Fecarotta S. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Parenti G. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Vajro P. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Zuppaldi A. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Casa R. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 700 1- Carbone M. Ospedale SS Annunziata, Naples aut NATIONALLICENCE 700 1- Correra A. Ospedale SS Annunziata, Naples aut NATIONALLICENCE 700 1- Torre G. U.O. Pediatria, Ospedali Riuniti, Bergamo aut NATIONALLICENCE 700 1- Riva S. U.O. Pediatria, Ospedali Riuniti, Bergamo aut NATIONALLICENCE 700 1- Dionisi-Vici C. Division of Metabolism and Molecular Medicine, IRCCS—Children's Hospital Bambino Gesù, Rome, Italy aut NATIONALLICENCE 700 1- Santorelli F. Division of Metabolism and Molecular Medicine, IRCCS—Children's Hospital Bambino Gesù, Rome, Italy aut NATIONALLICENCE 700 1- Andria G. Department of Pediatrics, "Federico II” University, Via S Pansini 5, 80131, Naples, Italy aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 186-189 0141-8955 29:1<186 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer