title: Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.
authors.forename: J L
authors.initials: JL
authors.lastname: Van Hove
authors.forename: P
authors.initials: P
authors.lastname: Kishnani
authors.forename: J
authors.initials: J
authors.lastname: Muenzer
authors.forename: R J
authors.initials: RJ
authors.lastname: Wenstrup
authors.forename: M L
authors.initials: ML
authors.lastname: Summar
authors.forename: M R
authors.initials: MR
authors.lastname: Brummond
authors.forename: A M
authors.initials: AM
authors.lastname: Lachiewicz
authors.forename: D S
authors.initials: DS
authors.lastname: Millington
authors.forename: S G
authors.initials: SG
authors.lastname: Kahler
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000378:metabolism; D001565:Benzoates / Q000009:adverse effects*; D019817:Benzoic Acid; D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use; D004347:Drug Interactions; D005260:Female; D005520:Food Preservatives / Q000009:adverse effects*; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male
chemical_list: D001565:Benzoates; D005520:Food Preservatives; D019817:Benzoic Acid; D002331:Carnitine; D005998:Glycine