PMID: 3769993Sep 1, 1986Paper

Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect

European Journal of Pediatrics
E A HaanD M Danks

Abstract

Sisters with a mild variant of non-ketotic hyperglycinaemia resulting from a defect in the T-protein of the glycine cleavage system had different clinical outcomes. The older sister was ascertained at 6 months of age because of mental retardation. She received only brief treatment with sodium benzoate from 11-15 months and at 15 years of age is profoundly retarded and has epilepsy. The younger sister was diagnosed 36 h after birth, was treated with strychnine, sodium benzoate and arginine from the neonatal period and at 27 months of age is only moderately retarded and free of seizures. The possible role of strychnine in the improved outcome is discussed.

References

Aug 1, 1978·American Journal of Diseases of Children·D M FrazierH R Chamberlin
Jan 1, 1978·Journal of Inherited Metabolic Disease·T AndoJ Stern
Apr 1, 1979·Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Für Klinische Chemie Und Klinische Biochemie·P ParvyP Kamoun
Jun 1, 1979·The Journal of Pediatrics·G S SteimanS Segal
Feb 1, 1977·Neuropädiatrie·G Holmgren, H K son Blomquist
Apr 1, 1978·The Journal of Pediatrics·F Pohlandt
Mar 1, 1975·Journal of Neurochemistry·T L PerryJ Kennedy
Jan 1, 1985·Journal of Inherited Metabolic Disease·D E Cole, D C Meek
Aug 1, 1972·Archives of Neurology·W J Bank, G Morrow
Jul 1, 1970·The Journal of Pediatrics·A OkkenF A Hommes
Nov 1, 1966·Journal of Neurochemistry·J C Dickinson, P B Hamilton
Feb 1, 1981·The Journal of Pediatrics·D A TraunerW L Nyhan
Nov 1, 1981·American Journal of Diseases of Children·L Von WendtK Kouvalainen

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Citations

Nov 26, 1999·Journal of Child Neurology·A H JacksonH L Levy
Oct 11, 2001·Molecular Genetics and Metabolism·D A Applegarth, J R Toone

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