Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan
Journal
Journal of Child Neurology
Journal Volume
19
Journal Issue
1
Pages
39-42
Date Issued
2004
Author(s)
Abstract
Neonatal-type nonketotic hyperglycinemia treatment remains unsatisfactory, even if started early. A review of six patients who underwent treatment for neonatal-type nonketotic hyperglycinemia in our hospital is presented. All patients were treated with a standardized protocol. Medical histories were retrieved from case notes. All six patients had elevated cerebrospinal fluid plasma glycine levels initially. All but one had received sodium benzoate and dextromethorphan from 1 month of age. All suffered from intractable seizures and severe mental retardation, and only two patients remain alive. One patient died at 5 days of age. No resuscitation was attempted in accordance with the family's wish after genetic counseling. The prognosis of neonatal nonketotic hyperglycinemia remains poor with current treatment. Genetic counseling helps parents cope with this devastating genetic disease.
SDGs
Other Subjects
benzoic acid; dextromethorphan; glycine; ketamine; amino acid blood level; anamnesis; article; cerebrospinal fluid analysis; clinical article; clinical protocol; decision making; disease classification; disease severity; dose response; drug megadose; family counseling; gastrointestinal symptom; genetic counseling; human; hyperglycinemia; infant; intractable epilepsy; mental deficiency; mortality; priority journal; prognosis; resuscitation; sedation; side effect; standardization; treatment outcome
Publisher
BC Decker Inc.
Type
journal article