Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Journal Article (Journal Article)

Five patients presenting with non-ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. This therapy resulted in seizure reduction and a marked increase in wakefulness. Plasma carnitine deficiency was noted in three of four patients tested, and benzoylcarnitine was identified in plasma, urine, and CSF. Treatment with L-carnitine normalized plasma free carnitine. L-carnitine showed a tendency to increase the glycine conjugation of benzoate. An episode of coma and increased seizures in one patient was associated with a toxic level of benzoate, probably due to insufficient mobilization of glycine for conjugation. High dose benzoate therapy improved the quality of life of surviving patients. Close monitoring of glycine, benzoate and carnitine levels is advised.

Full Text

Duke Authors

Cited Authors

  • Van Hove, JL; Kishnani, P; Muenzer, J; Wenstrup, RJ; Summar, ML; Brummond, MR; Lachiewicz, AM; Millington, DS; Kahler, SG

Published Date

  • December 4, 1995

Published In

Volume / Issue

  • 59 / 4

Start / End Page

  • 444 - 453

PubMed ID

  • 8585564

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320590410


  • eng

Conference Location

  • United States