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Neuberger JM, Schweitzer S, Rolland MO, et al. Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. J Inherit Metab Dis. 2000;23(1):22-6doi: 10.1023/a:1005642728513.
Neuberger, J. M., Schweitzer, S., Rolland, M. O., & Burghard, R. (2000). Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. Journal of inherited metabolic disease, 23(1), 22-6. https://doi.org/10.1023/a:1005642728513
Neuberger, J M, et al. "Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia." Journal of inherited metabolic disease vol. 23,1 (2000): 22-6. doi: https://doi.org/10.1023/a:1005642728513
Neuberger JM, Schweitzer S, Rolland MO, Burghard R. Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia. J Inherit Metab Dis. 2000 Feb;23(1):22-6. doi: 10.1023/a:1005642728513. PMID: 10682305.
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J Inherit Metab Dis. 2000 Feb;23(1):22-6. doi: 10.1023/a:1005642728513.

Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia.

Journal of inherited metabolic disease

J M Neuberger, S Schweitzer, M O Rolland, R Burghard

Affiliations

  1. Children's Hospital, Memmingen, Germany. [email protected]

PMID: 10682305 DOI: 10.1023/a:1005642728513

Abstract

A 6-month-old girl presented with hypotonia and mild psychomotor retardation. Subsequently, an atypical manifestation of a nonketotic hyperglycinaemia was diagnosed, confirmed by significantly reduced activity of the glycine cleavage system in the liver tissue. After the patient developed hypsarrhythmia and had a single cerebral seizure, treatment with both sodium benzoate and dextromethorphan was started. During the following year, the girl was free of seizures with improvement of the EEG activity and showed retarded but continuously progressing psychomotor development. At the age of 20 months she began to walk freely but had generalized muscular hypotonia and moderate mental retardation. Discontinuation of dextromethorphan medication after one year of treatment did not change the clinical and electroencephalographic status. However, after cessation of sodium benzoate therapy, epileptic activity in the EEG and behavioural changes occurred. These changes disappeared promptly after sodium benzoate therapy was reinstituted. Thus, this case of mild atypical nonketotic hyperglycinaemia with only moderate psychomotor retardation and without epilepsy benefited from treatment with sodium benzoate in terms of electroencephalographic and behavioural changes.

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