European Journal of Pediatrics

, Volume 162, Issue 11, pp 773–775

Hyperammonaemia as a cause of psychosis in an adolescent

  • Amaya Bélanger-Quintana
  • Mercedes Martínez-Pardo
  • María José García
  • Bendicht Wermuth
  • Julián Torres
  • Esperanza Pallarés
  • Magdalena Ugarte
Original Paper

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

References

  1. 1.
    Bachmann C, Krähenbühl S, Colombo JP, Schubinger G, Jaggi KM, Tonz O (1981) N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxification. N Engl J Med 304: 543Google Scholar
  2. 2.
    Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP (1988) N-acetylglutamate synthetase deficiency: a second patient. J Inherit Metab Dis 11: 191–193Google Scholar
  3. 3.
    Broere D, van Gemest WG, Kneepkens CM, Neele DM, Manoliu RA, Rauwerda JA, van der Knaaps MS (2000) A 6 year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? Eur J Pediatr 159: 905–907PubMedGoogle Scholar
  4. 4.
    Burlina AB, Bachmann C, Wermuth B, Bordugo A, FerranV, Colombo JP, Zacchello F (1992) Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders. J Inherit Metab Dis 15: 395–398Google Scholar
  5. 5.
    Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H (1990) Late onset form of partial N-acetylglutamate synthetase deficiency. Eur J Pediatr 149: 634–636PubMedGoogle Scholar
  6. 6.
    Feillet F, Leonard JV (1998) Alternative pathway therapy for urea cycle disorders. J Inherit Metab Dis 21[Suppl 1]: 101–111Google Scholar
  7. 7.
    Guffon N, Vianey-Saban C, Bourgeois J, Rabier D, Colombo JP, Guibaud P (1995) A new neonatal case of N-acetylglutamate synthetase deficiency treated by carbamylglutamate. J Inherit Metab Dis 18: 61–65Google Scholar
  8. 8.
    Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ (1997) N-acetylglutamate synthetase deficiency responding to carbamylglutamate. J Inherit Metab Dis 20: 839–840Google Scholar
  9. 9.
    Martínez-Pardo M (1997) Coma metabólico agudo en errores congénitos del metabolismo. In: Casado Flores J, Serrano A (eds) Coma en pediatría: diagnóstico y tratamiento. Ed Díaz de Santos, Madrid, pp 143–155Google Scholar
  10. 10.
    Morris AA, Richmond SW, Oddie SJ, Pourfarzan M, Worthington V, Leonard JV (1998) N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate. J Inherit Metab Dis 21: 867–868Google Scholar
  11. 11.
    Pandya AL, Koch R, Hommes FA, Williams JC (1991) N-acetylglutamate synthetase deficiency: clinical and laboratory observations. J Inherit Metab Dis 14: 685–690Google Scholar
  12. 12.
    Plecko B, Erwa W, Wermuth B (1998) Partial N-acetylglutamate deficiency in a 13-year-old-girl: diagnosis and response to treatment with N-carbamylglutamate. Eur J Pediatr 157: 996–998CrossRefPubMedGoogle Scholar
  13. 13.
    Saudubray JM, Ogier de Baulny H, Charpentier C (1996) Clinical approach to inherited metabolic diseases. In Fernandes J, Saudubray J-M, van den Berghe G (eds) Inborn metabolic diseases: diagnosis and treatment, 2nd edn. Springer, Berlin Heidelberg New York, pp 3–39Google Scholar
  14. 14.
    Schubiger G, Bachmann C, Barben P, Colombo JP, Tonz O, Schuphach D (1991) N-acetylglutamate synthase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxification. Eur J Pediatr 150: 353–356PubMedGoogle Scholar
  15. 15.
    Vockley J, Walsh-Vockley CM, Lin SP, Tuchman M, Wu TC, Lin CY, Seashore MR (1992) Normal N-acetylglutamate synthetase concentration measured in liver from a new patient with N-acetylglutamate synthetase deficiency: physiological and biochemical implications. Biochem Med Metab Biol 47: 38–46PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Amaya Bélanger-Quintana
    • 1
  • Mercedes Martínez-Pardo
    • 1
  • María José García
    • 2
  • Bendicht Wermuth
    • 3
  • Julián Torres
    • 4
  • Esperanza Pallarés
    • 1
  • Magdalena Ugarte
    • 2
  1. 1.Unidad de Enfermedades MetabólicasServicio de Pediatría, Hospital Ramón y CajalMadridSpain
  2. 2.Centro de Diagnostico of Enfemedades MolecularesUniversidad Autónoma de MadridMadridSpain
  3. 3.Department of Clinical ChemistryInselspitalBerneSwitzerland
  4. 4.Departamento de NeuropediatríaHospital de MóstolesMadridSpain

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