Abstract
Extract: A male infant with hyperglycinemia presented with neonatal seizures and lethargy, but had neither ketosis nor hematologic abnormalities. Treatment with a low protein diet and glycine-binding agents was instituted at the age of 2 ½ months. Although greater alertness and reduced irritability were noted immediately, the treatment failed to prevent severe developmental retardation and persistent seizures.
Speculation: The structural and metabolic basis for the severe neurological damage seen in this rare hereditary metabolic defect is unclear. It seems imperative, however, that prompt diagnosis and therapy be instituted if one expects to offer a better prognosis. Attempts to maintain normoglycmemia by using a low-protein diet and glycine-binding agents may be useful if serum glycine levels are monitored carefully.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Ziter, F., Bray, P., Madsen, J. et al. The Clinical Findings in a Patient with Nonketotic Hyperglycinemia. Pediatr Res 2, 250–253 (1968). https://doi.org/10.1203/00006450-196807000-00003
Issue Date:
DOI: https://doi.org/10.1203/00006450-196807000-00003
Keywords
This article is cited by
-
Excretion of hippuric acid during sodium benzoate therapy in patients with hyperglycinaemia or hyperammonaemia
Journal of Inherited Metabolic Disease (1989)
-
Treatment of non‐ketotic hyperglycinaemia with diazepam, choline and folic acid
Journal of Inherited Metabolic Disease (1982)
-
Clinical and therapeutic aspects of non‐ketotic hyperglycinaemia
Journal of Inherited Metabolic Disease (1982)
-
Non‐ketotic hyperglycinaemia in a family with an unusual phenotype
Journal of Inherited Metabolic Disease (1978)
-
Nichtketotische Hyperglycin�mie
Zeitschrift f�r Kinderheilkunde (1974)