Journal of Inherited Metabolic Disease

, Volume 29, Issue 1, pp 186–189

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
Short Report

DOI: 10.1007/s10545-006-0120-7

Cite this article as:
Fecarotta, S., Parenti, G., Vajro, P. et al. J Inherit Metab Dis (2006) 29: 186. doi:10.1007/s10545-006-0120-7

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.

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • S. Fecarotta
    • 1
  • G. Parenti
    • 1
  • P. Vajro
    • 1
  • A. Zuppaldi
    • 1
  • R. Della Casa
    • 1
  • M. T. Carbone
    • 2
  • A. Correra
    • 2
  • G. Torre
    • 3
  • S. Riva
    • 3
  • C. Dionisi-Vici
    • 4
  • F. M. Santorelli
    • 4
  • G. Andria
    • 1
  1. 1.Department of Pediatrics“Federico II” UniversityNaplesItaly
  2. 2.Ospedale SS AnnunziataNaples
  3. 3.U.O. PediatriaOspedali RiunitiBergamo
  4. 4.Division of Metabolism and Molecular MedicineIRCCS—Children’s Hospital Bambino GesùRomeItaly