European Journal of Pediatrics

, Volume 162, Issue 11, pp 773–775

Hyperammonaemia as a cause of psychosis in an adolescent

Authors

    • Unidad de Enfermedades MetabólicasServicio de Pediatría, Hospital Ramón y Cajal
  • Mercedes Martínez-Pardo
    • Unidad de Enfermedades MetabólicasServicio de Pediatría, Hospital Ramón y Cajal
  • María José García
    • Centro de Diagnostico of Enfemedades MolecularesUniversidad Autónoma de Madrid
  • Bendicht Wermuth
    • Department of Clinical ChemistryInselspital
  • Julián Torres
    • Departamento de NeuropediatríaHospital de Móstoles
  • Esperanza Pallarés
    • Unidad de Enfermedades MetabólicasServicio de Pediatría, Hospital Ramón y Cajal
  • Magdalena Ugarte
    • Centro de Diagnostico of Enfemedades MolecularesUniversidad Autónoma de Madrid
Original Paper

DOI: 10.1007/s00431-002-1126-2

Cite this article as:
Bélanger-Quintana, A., Martínez-Pardo, M., García, M.J. et al. Eur J Pediatr (2003) 162: 773. doi:10.1007/s00431-002-1126-2

Abstract

Diseases that cause hyperammonaemia usually appear during the neonatal period or during the first months of life as severe neurological metabolic distress. In some cases, as the one reported here, the age of onset and initial symptoms are non-specific and the episodes of acute metabolic encephalopathy may be attributed to encephalitis, poisoning or psychiatric problems. Our patient had N-acetyl glutamate synthetase deficiency due to a lack of activation by L-arginine. Treatment with N-carbamylglutamate was successful in maintaining normal ammonia levels. Conclusion: we emphasise the importance of measuring ammonia levels in patients with neurological or psychiatric symptoms as part of their diagnostic work-up.

Keywords

Adolescent Hyperammonaemia N-acetylglutamate synthetase deficiency N-carbamylglutamate Psychosis

Abbreviations

CPS

carbamoyl phosphate synthetase

NAG

N-acetylglutamate

NAGS

N-acetylglutamate synthetase

NCG

N-carbamylglutamate

OTC

ornithine transcarbamylase

Copyright information

© Springer-Verlag 2003