Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.

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.
Authors	Yin-Hsiu Chien, Chia-Chi Hsu, Aichu Huang, Shi-Ping Chou, Frank-Li Lu, Wang-Tso Lee, Wuh-Liang Hwu
Journal	Journal of child neurology (J Child Neurol) Vol. 19 Issue 1 Pg. 39-42 (Jan 2004) ISSN: 0883-0738 [Print] United States
PMID	15032382 (Publication Type: Journal Article)
Chemical References	Excitatory Amino Acid Antagonists Dextromethorphan Sodium Benzoate Diazepam Glycine
Topics	Brain (pathology) Child, Preschool Chromosome Aberrations Dextromethorphan (administration & dosage) Diazepam (administration & dosage) Disease Progression Diseases in Twins Dose-Response Relationship, Drug Drug Administration Schedule Drug Therapy, Combination Excitatory Amino Acid Antagonists (administration & dosage) Female Follow-Up Studies Genes, Recessive (genetics) Genetic Counseling Glycine (cerebrospinal fluid) Humans Hyperglycinemia, Nonketotic (diagnosis, drug therapy, genetics, mortality) Infant Infant, Newborn Magnetic Resonance Imaging Male Muscle Tonus (drug effects) Neurologic Examination (drug effects) Respiration, Artificial Sodium Benzoate (administration & dosage) Survival Rate Taiwan

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