Difficulties in assessing the effect of strychnine on the outcome of non-ketotic hyperglycinaemia. Observations on sisters with a mild T-protein defect.
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.
D000293:Adolescent; D050960:Aminomethyltransferase; D001120:Arginine / Q000627:therapeutic use; D001565:Benzoates / Q000627:therapeutic use; D019817:Benzoic Acid; D002675:Child, Preschool; D004341:Drug Evaluation; D004359:Drug Therapy, Combination; D005260:Female; D005998:Glycine / Q000097:blood*; D006801:Humans; D019877:Hydroxymethyl and Formyl Transferases; D008607:Intellectual Disability / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D013331:Strychnine / Q000627:therapeutic use*; D013997:Time Factors; D014166:Transferases / Q000172:deficiency*
D001565:Benzoates; D019817:Benzoic Acid; D001120:Arginine; D014166:Transferases; D019877:Hydroxymethyl and Formyl Transferases; D050960:Aminomethyltransferase; D013331:Strychnine; D005998:Glycine