title: Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation.
abstract: Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine.
authors.affiliation: Department of Clinical Biochemistry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. korman@hadassah.org.il
authors.forename: Stanley H
authors.initials: SH
authors.lastname: Korman
authors.forename: Avihu
authors.initials: A
authors.lastname: Boneh
authors.forename: Akiko
authors.initials: A
authors.lastname: Ichinohe
authors.forename: Kanako
authors.initials: K
authors.lastname: Kojima
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sato
authors.forename: Zivanit
authors.initials: Z
authors.lastname: Ergaz
authors.forename: John M
authors.initials: JM
authors.lastname: Gomori
authors.forename: Alisa
authors.initials: A
authors.lastname: Gutman
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D000328:Adult; D000594:Amino Acid Oxidoreductases / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018691:Excitatory Amino Acid Antagonists / Q000627:therapeutic use; D005260:Female; D005998:Glycine / Q000378:metabolism; D050841:Glycine Dehydrogenase (Decarboxylating); D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D007231:Infant, Newborn; D007649:Ketamine / Q000627:therapeutic use; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011379:Prognosis; D012121:Respiration, Artificial; D020160:Sodium Benzoate / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D018691:Excitatory Amino Acid Antagonists; D007649:Ketamine; D000594:Amino Acid Oxidoreductases; D050841:Glycine Dehydrogenase (Decarboxylating); D020160:Sodium Benzoate; D005998:Glycine