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

Journal of Inherited Metabolic Disease

Volumn 23, Issue 1, 2000, Pages 15-21

  Wiltshire, E J ^a   Poplawski, N K ^a   Harrison, J R ^a   Fletcher, J M ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BENZOIC ACID; CYPROHEPTADINE; IMIPRAMINE; METHYLPHENIDATE; PLACEBO; PROTEIN; TRYPTOPHAN;

ARTICLE; BEHAVIOR DISORDER; CASE REPORT; FEMALE; HUMAN; HYPERGLYCINEMIA; KETOACIDOSIS; MALE; ONSET AGE; PRESCHOOL CHILD; PROTEIN RESTRICTION; SCORING SYSTEM;

BENZOATES; CHILD, PRESCHOOL; CROSS-OVER STUDIES; DOUBLE-BLIND METHOD; FEMALE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; IMIPRAMINE; TRYPTOPHAN;

EID: 0033973104     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005690611675     Document Type: Article

References (18)

1. 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.
2. 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.
3. Gitzelmann R, Cuenod M, Otten A, Steinmann B, Dumermuth G (1977) Nonketotic hyperglycinemia treated with strychnine. Pediatr Res 11: 1016.
4. Greenamyre JT, Porter RHP (1994) Anatomy and physiology of glutamate in the CNS. Neurology 44(supplement 8): S7-S13.
5. 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.
6. 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.
7. Holmgren G, Blomquist HK (1976) Non-ketotic hyperglycinemia in two sibs with mild psychoneurological symptoms. Neuropaediatrie 8(1): 67-72.
8. 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.
9. Matalon R, Naidu S, Hughes JR, Michals K (1983) Nonketotic hyperglycinemia: treatment with diazepam - a competitor for glycine receptors. Pediatrics 71: 581-584.
10. 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.
11. 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.
12. 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.
13. 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.
14. Skolnick P, Layer RT, Popik P, Nowak G, Paul IA, Trullas R (1996) Adaptation of N-methyl-D-aspartate (NMDA) receptors following antidepressant therapy: implications for the pharmacotherapy of depression. Pharmacopsychiatry 29(1): 23-26.
15. Steiman GS, Yudkoff M, Berman PH, Blazer-Yost B, Segal S (1979) Late onset nonketotic hyperglycinemia and spinocerebellar degeneration. J Pediatr 94(6): 907-911.
16. 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.
17. 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.
18. Van Hove JLK, Kishnani P, Muenzer, et al (1994). Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia. Am J Med Genet 59: 444-453.