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Published in: European Journal of Pediatrics 11/2003

01-11-2003 | Original Paper

Hyperammonaemia as a cause of psychosis in an adolescent

Authors: Amaya Bélanger-Quintana, Mercedes Martínez-Pardo, María José García, Bendicht Wermuth, Julián Torres, Esperanza Pallarés, Magdalena Ugarte

Published in: European Journal of Pediatrics | Issue 11/2003

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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.
Literature
1.
go back to reference 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: 543 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: 543
2.
go back to reference Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP (1988) N-acetylglutamate synthetase deficiency: a second patient. J Inherit Metab Dis 11: 191–193 Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP (1988) N-acetylglutamate synthetase deficiency: a second patient. J Inherit Metab Dis 11: 191–193
3.
go back to reference 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: 905–907PubMed 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: 905–907PubMed
4.
go back to reference 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: 395–398 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: 395–398
5.
go back to reference Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H (1990) Late onset form of partial N-acetylglutamate synthetase deficiency. Eur J Pediatr 149: 634–636PubMed Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H (1990) Late onset form of partial N-acetylglutamate synthetase deficiency. Eur J Pediatr 149: 634–636PubMed
6.
go back to reference Feillet F, Leonard JV (1998) Alternative pathway therapy for urea cycle disorders. J Inherit Metab Dis 21[Suppl 1]: 101–111 Feillet F, Leonard JV (1998) Alternative pathway therapy for urea cycle disorders. J Inherit Metab Dis 21[Suppl 1]: 101–111
7.
go back to reference 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: 61–65 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: 61–65
8.
go back to reference Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ (1997) N-acetylglutamate synthetase deficiency responding to carbamylglutamate. J Inherit Metab Dis 20: 839–840 Hinnie J, Colombo JP, Wermuth B, Dryburgh FJ (1997) N-acetylglutamate synthetase deficiency responding to carbamylglutamate. J Inherit Metab Dis 20: 839–840
9.
go back to reference 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 143–155 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 143–155
10.
go back to reference 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: 867–868 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: 867–868
11.
go back to reference Pandya AL, Koch R, Hommes FA, Williams JC (1991) N-acetylglutamate synthetase deficiency: clinical and laboratory observations. J Inherit Metab Dis 14: 685–690 Pandya AL, Koch R, Hommes FA, Williams JC (1991) N-acetylglutamate synthetase deficiency: clinical and laboratory observations. J Inherit Metab Dis 14: 685–690
12.
go back to reference 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: 996–998CrossRefPubMed 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: 996–998CrossRefPubMed
13.
go back to reference 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 3–39 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 3–39
14.
go back to reference 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: 353–356PubMed 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: 353–356PubMed
15.
go back to reference 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: 38–46PubMed 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: 38–46PubMed
Metadata
Title
Hyperammonaemia as a cause of psychosis in an adolescent
Authors
Amaya Bélanger-Quintana
Mercedes Martínez-Pardo
María José García
Bendicht Wermuth
Julián Torres
Esperanza Pallarés
Magdalena Ugarte
Publication date
01-11-2003
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 11/2003
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-002-1126-2

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