HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

S. Fecarotta, G. Parenti, P. Vajro, A. Zuppaldi, R. Della Casa, M. T. Carbone, A. Correra, G. Torre, S. Riva, C. Dionisi-Vici, F. M. Santorelli, G. Andria

Research output: Contribution to journalArticle

27 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)186-189
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume29
Issue number1
DOIs
Publication statusPublished - Feb 2006

Fingerprint

Hepatitis
Liver Transplantation
Hyperammonemia
Protein-Restricted Diet
Liver Function Tests
Aspartate Aminotransferases
Alanine Transaminase
Ammonia
Alanine
Arginine
Necrosis
HHH syndrome
Mutation
Infection
Genes
Therapeutics

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Fecarotta, S., Parenti, G., Vajro, P., Zuppaldi, A., Della Casa, R., Carbone, M. T., ... Andria, G. (2006). HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. Journal of Inherited Metabolic Disease, 29(1), 186-189. https://doi.org/10.1007/s10545-006-0120-7

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. / Fecarotta, S.; Parenti, G.; Vajro, P.; Zuppaldi, A.; Della Casa, R.; Carbone, M. T.; Correra, A.; Torre, G.; Riva, S.; Dionisi-Vici, C.; Santorelli, F. M.; Andria, G.

In: Journal of Inherited Metabolic Disease, Vol. 29, No. 1, 02.2006, p. 186-189.

Research output: Contribution to journalArticle

Fecarotta, S, Parenti, G, Vajro, P, Zuppaldi, A, Della Casa, R, Carbone, MT, Correra, A, Torre, G, Riva, S, Dionisi-Vici, C, Santorelli, FM & Andria, G 2006, 'HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation', Journal of Inherited Metabolic Disease, vol. 29, no. 1, pp. 186-189. https://doi.org/10.1007/s10545-006-0120-7
Fecarotta, S. ; Parenti, G. ; Vajro, P. ; Zuppaldi, A. ; Della Casa, R. ; Carbone, M. T. ; Correra, A. ; Torre, G. ; Riva, S. ; Dionisi-Vici, C. ; Santorelli, F. M. ; Andria, G. / HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation. In: Journal of Inherited Metabolic Disease. 2006 ; Vol. 29, No. 1. pp. 186-189.
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