Journal of Inherited Metabolic Disease

, Volume 32, Supplement 1, pp 175–178 | Cite as

Early-onset hyperargininaemia: A severe disorder?

  • M. Schiff
  • J.-F. Benoist
  • M. L. Cardoso
  • M. Elmaleh-Bergès
  • P. Forey
  • J. Santiago
  • H. Ogier de Baulny
Short Report


Hyperargininaemia is a rare inborn error of metabolism due to a defect in the final step of the urea cycle. Infantile onset is the most common presentation with recurrent vomiting and psychomotor delay associated with spastic paraparesis; chronic hyperammonaemia is often overlooked. Neonatal and early-onset presentations are very uncommon and their clinical course not well-described. We report on a 3-week-old hyperargininaemic girl who presented with neurological deterioration associated with liver failure and 47-day ammonia intoxication before diagnosis could be made and treatment started. Despite appropriate but delayed treatment, our patient exhibited severe psychomotor delay at age 1 year. Conclusion Early identification and management of this rare but potentially treatable affection is crucial as delayed management may result in poor neurological outcome.


Arginase Maple Syrup Urine Disease Orotic Acid Maple Syrup Urine Disease Poor Neurological Outcome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



essential amino acids




serum glutamic oxaloacetic transaminase


serum glutamic pyruvic transaminase


urea cycle disorder



We are particularly grateful to Dr Daniel Rabier, who performed arginase activity measurement in red blood cells.


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • M. Schiff
    • 1
    • 5
  • J.-F. Benoist
    • 1
  • M. L. Cardoso
    • 2
  • M. Elmaleh-Bergès
    • 1
  • P. Forey
    • 3
  • J. Santiago
    • 4
  • H. Ogier de Baulny
    • 1
  1. 1.Centre de référence Maladies MétaboliquesHôpital Robert Debré, APHPParisFrance
  2. 2.Instituto de Genética Médica Jacinto de MagalhãesPortoPortugal
  3. 3.Service de Pédiatrie, Hôpital d’EnfantsSaint-Denis de La RéunionFrance
  4. 4.Service de Pédiatrie, Centre Hospitalier de MayotteMayotteFrance
  5. 5.Service de Neuropédiatrie et Maladies MétaboliquesHôpital Robert DebréParisFrance

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