Hyperammonaemia as a cause of psychosis in an adolescent (original) (raw)
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.
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Abbreviations
CPS:
carbamoyl phosphate synthetase
NAG:
N-acetylglutamate
NAGS:
N-acetylglutamate synthetase
NCG:
N-carbamylglutamate
OTC:
ornithine transcarbamylase
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Authors and Affiliations
- Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Ramón y Cajal, Ctra de Colmenar Km 9.1, 28034 , Madrid, Spain
Amaya Bélanger-Quintana, Mercedes Martínez-Pardo & Esperanza Pallarés - Centro de Diagnostico of Enfemedades Moleculares, Universidad Autónoma de Madrid, Madrid, Spain
María José García & Magdalena Ugarte - Department of Clinical Chemistry, Inselspital, Berne, Switzerland
Bendicht Wermuth - Departamento de Neuropediatría, Hospital de Móstoles, Madrid, Spain
Julián Torres
Authors
- Amaya Bélanger-Quintana
You can also search for this author inPubMed Google Scholar - Mercedes Martínez-Pardo
You can also search for this author inPubMed Google Scholar - María José García
You can also search for this author inPubMed Google Scholar - Bendicht Wermuth
You can also search for this author inPubMed Google Scholar - Julián Torres
You can also search for this author inPubMed Google Scholar - Esperanza Pallarés
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Correspondence toAmaya Bélanger-Quintana.
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Bélanger-Quintana, A., Martínez-Pardo, M., García, M.J. et al. Hyperammonaemia as a cause of psychosis in an adolescent.Eur J Pediatr 162, 773–775 (2003). https://doi.org/10.1007/s00431-002-1126-2
- Received: 11 March 2002
- Accepted: 29 October 2002
- Published: 27 August 2003
- Issue Date: November 2003
- DOI: https://doi.org/10.1007/s00431-002-1126-2