title: Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
abstract: In neonatal-onset nonketotic hyperglycinemia, severe psychomotor retardation is the expected uniform outcome. We report two patients with typical neonatal presentation who showed far better developmental outcomes. The in vitro expression analysis of the identified GLDC mutations revealed considerable residual enzyme activity, suggesting prognostic and enzymatic heterogeneity even in neonatal-onset nonketotic hyperglycinemia.
authors.affiliation: Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan. skure@mail.tains.tohoku.ac.jp
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
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: Zenro
authors.initials: Z
authors.lastname: Kizaki
authors.forename: Fumio
authors.initials: F
authors.lastname: Inoue
authors.forename: Chutaro
authors.initials: C
authors.lastname: Yamanaka
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsubara
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020869:Gene Expression Profiling; D050841:Glycine Dehydrogenase (Decarboxylating); D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D007564:Japan; D010641:Phenotype; D011379:Prognosis
chemical_list: D000594:Amino Acid Oxidoreductases; D050841:Glycine Dehydrogenase (Decarboxylating)