Skip to main content
SpringerLink
Log in

Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate

  • Published:
Journal of Inherited Metabolic Disease

Abstract

We report a patient with late-onset nonketotic hyperglycinaemia managed with a sequential approach to drug therapy in placebo-controlled therapeutic trials. Partial response to low-protein diet and sodium benzoate and dramatic response to imipramine are demonstrated, with parental scores on the Developmental Behavioural Checklist falling from the 86th centile before treatment to normal with combined benzoate and imipramine therapy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

REFERENCES

  • Einfield SL, Tonge BJ (1994) Manual for the Developmental Behaviour Checklist. Melbourne: School of Psychiatry, University of NSW and Centre for Developmental Psychiatry, Monash University.

    Google Scholar 

  • Flannery DB, Pellock J, Bousounis D, Hunt P, Nance C, Wolf B (1983) Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia. Neurology 33: 1064-1066.

    Google Scholar 

  • Gitzelmann R, Cuenod M, Otten A, Steinmann B, Dumermuth G (1977) Nonketotic hyperglycinemia treated with strychnine. Pediatr Res 11: 1016.

    Google Scholar 

  • Greenamyre JT, Porter RHP (1994) Anatomy and physiology of glutamate in the CNS. Neurology 44(supplement 8): S7-S13.

    Google Scholar 

  • Hamosh A, Johnson MV, Valle D (1995) Nonketotic hyperglycinemia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1337-1348.

    Google Scholar 

  • Hamosh A, McDonald JW, Valle D, Francomano CA, Niedermeyer E, Johnston MV (1992) Dextromethorphan and high dose benzoate therapy for nonketotic hyperglycinemia in an infant. J Pediatr 121: 131-135.

    Google Scholar 

  • Holmgren G, Blomquist HK (1976) Non-ketotic hyperglycinemia in two sibs with mild psychoneurological symptoms. Neuropaediatrie 8(1): 67-72.

    Google Scholar 

  • Leeson PD, Iversen LL (1994) The glycine site on the NMDA receptor: structure-activity relationships and therapeutic potential. J Med Chem 37(24): 4053-4067.

    Google Scholar 

  • Matalon R, Naidu S, Hughes JR, Michals K (1983) Nonketotic hyperglycinemia: treatment with diazepam-a competitor for glycine receptors. Pediatrics 71: 581-584.

    Google Scholar 

  • Matsuo S, Inoue F, Takeuchi Y, Yoshioka H, Kinugasa A, Sawada T (1995) Efficacy of tryptophan for the treatment of nonketotic hyperglycinemia: a new therapeutic approach for modulating the N-methyl-D-aspartate receptor. Pediatrics 95(1): 142-146.

    Google Scholar 

  • Ogier H, Aicardi J (1992) Metabolic disease-Nonketotic hyperglycinemia. In Aicardi J, ed. Diseases of the Nervous System in Childhood. London: MacKeith Press, 430-433.

    Google Scholar 

  • Ohya Y, Ochi N, Mitzutani N, Hayakawa C, Watanabe K (1991) Nonketotic hyperglycinemia: treatment with NMDA antagonist and consideration of neuropathogenesis. Pediatr Neurol 7: 65-68.

    Google Scholar 

  • Schmitt B, Steinmann B, Gitzelmann R, Thun-Hohenstein L, Mascher H, Dumermuth G (1993) Nonketotic hyperglycinemia: clinical and electrophysiological effects of dextromethorphan, an antagonist of the NMDA receptor. Neurology 43: 421-424.

    Google Scholar 

  • Skolnick P, Layer RT, Popik P, Nowak G, Paul IA, Trullas R (1996) Adaptation of Ν-methyl-Ũ-aspartate (NMDA) receptors following antidepressant therapy: implications for the pharmacotherapy of depression. Pharmacopsychiatry 29(1): 23-26.

    Google Scholar 

  • Steiman GS, Yudko. M, Berman PH, Blazer-Yost B, Segal S (1979) Late onset nonketotic hyperglycinemia and spinocerebellar degeneration. J Pediatr 94(6): 907-911.

    Google Scholar 

  • Tohda M, Urushihara H, Nomura Y (1995) Inhibitory effects of antidepressants on NMDA induced currents in Xenopus oocytes injected with rat brain RNA. Neurochem Int 26(1): 53-58.

    Google Scholar 

  • Trauner DA, Page T, Greco C, Sweetman L, Kulovich S, Nyhan WL (1981) Progressive neurodegenerative disorder in a patient with nonketotic hyperglycinemia. J Pediatr 98(2): 272-275.

    Google Scholar 

  • Van Hove JLK, Kishnani P, Muenzer, et al (1994). Benzoate therapy and carnitine deffciency in non-ketotic hyperglycinemia. Am J Med Genet 59: 444-453.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Chemical Pathology, Women's and Children's Hospital, Adelaide, South Australia, Australia

    E. J. Wiltshire, N. K. Poplawski, J. R. Harrison & J. M. Fletcher

Authors
  1. E. J. Wiltshire
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. N. K. Poplawski
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. R. Harrison
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. J. M. Fletcher
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wiltshire, E.J., Poplawski, N.K., Harrison, J.R. et al. Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate. J Inherit Metab Dis 23, 15–21 (2000). https://doi.org/10.1023/A:1005690611675

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1005690611675

Keywords

Search

Navigation