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

  1. 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
  2. Centro de Diagnostico of Enfemedades Moleculares, Universidad Autónoma de Madrid, Madrid, Spain
    María José García & Magdalena Ugarte
  3. Department of Clinical Chemistry, Inselspital, Berne, Switzerland
    Bendicht Wermuth
  4. Departamento de Neuropediatría, Hospital de Móstoles, Madrid, Spain
    Julián Torres

Authors

  1. Amaya Bélanger-Quintana
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  2. Mercedes Martínez-Pardo
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  3. María José García
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  4. Bendicht Wermuth
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  5. Julián Torres
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  6. Esperanza Pallarés
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  7. Magdalena Ugarte
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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

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