title: [Non-ketotic hyperglycinemia].
abstract: Three children with non-ketotic hyperglycinaemia (NKH) is reported. Two patients had typical neonatal form of NKH, one patients had atypical form of NKH. The clinical symptoms laboratory findings and therapeutical approach are discussed. One of the patients with typical neonatal form of NKH is died, neuropatological examination revealed corpus callosal agenesis and diffuse hypomyelinisation. The two children treated with N-methyl-D-aspartate-antagonist drugs reached a significantly better clinical condition. The authors reviewed the data of the literature, especially focused on the therapeutical possibilities.
authors.affiliation: Semmelweis OTE II, Gyermekklinika.
authors.forename: R
authors.initials: R
authors.lastname: Kálmánchey
authors.forename: L
authors.initials: L
authors.lastname: Szücs
authors.forename: K
authors.initials: K
authors.lastname: Majtényi
authors.forename: Z
authors.initials: Z
authors.lastname: Liptai
authors.forename: M
authors.initials: M
authors.lastname: Dobos
authors.forename: I
authors.initials: I
authors.lastname: Krause
authors.forename: I
authors.initials: I
authors.lastname: Nagy
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000401:mortality; D001786:Blood Glucose; D004569:Electroencephalography; D005260:Female; D005998:Glycine / Q000097:blood*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016202:N-Methylaspartate / Q000037:antagonists & inhibitors
chemical_list: D001786:Blood Glucose; D016202:N-Methylaspartate; D005998:Glycine
vernacular_title: Non-ketoticus hyperglycinaemia.