title: 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.affiliation: Department of Medical Genetics, National Taiwan University Hospital, National Taiwan University College of Medicine, Taipei.
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Chia-Chi
authors.initials: CC
authors.lastname: Hsu
authors.forename: Aichu
authors.initials: A
authors.lastname: Huang
authors.forename: Shi-Ping
authors.initials: SP
authors.lastname: Chou
authors.forename: Frank-Li
authors.initials: FL
authors.lastname: Lu
authors.forename: Wang-Tso
authors.initials: WT
authors.lastname: Lee
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003915:Dextromethorphan / Q000008:administration & dosage*; D003975:Diazepam / Q000008:administration & dosage; D018450:Disease Progression; D004200:Diseases in Twins; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D004359:Drug Therapy, Combination; D018691:Excitatory Amino Acid Antagonists / Q000008:administration & dosage*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D005998:Glycine / Q000134:cerebrospinal fluid; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000401:mortality; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009129:Muscle Tonus / Q000187:drug effects; D009460:Neurologic Examination / Q000187:drug effects; D012121:Respiration, Artificial; D020160:Sodium Benzoate / Q000008:administration & dosage*; D015996:Survival Rate; D013624:Taiwan
chemical_list: D018691:Excitatory Amino Acid Antagonists; D003915:Dextromethorphan; D020160:Sodium Benzoate; D003975:Diazepam; D005998:Glycine