title: Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
abstract: Transient neonatal hyperglycinemia is clinically or biochemically indistinguishable from nonketotic hyperglycinemia at onset. In the case of transient neonatal hyperglycinemia, the elevated plasma and cerebrospinal fluid glycine levels are normalized within 2 to 8 weeks. To elucidate the pathogenesis of transient neonatal hyperglycinemia, we studied three patients by screening mutations in the genes that encode three components of the glycine cleavage system. Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia.
authors.affiliation: Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai 980-8574, Japan. skure@mail.cc.tohoku.ac.jp
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
authors.forename: Kanako
authors.initials: K
authors.lastname: Kojima
authors.forename: Akiko
authors.initials: A
authors.lastname: Ichinohe
authors.forename: Tomoki
authors.initials: T
authors.lastname: Maeda
authors.forename: Rozalia
authors.initials: R
authors.lastname: Kalmanchey
authors.forename: György
authors.initials: G
authors.lastname: Fekete
authors.forename: Suzan Z
authors.initials: SZ
authors.lastname: Berg
authors.forename: Jim
authors.initials: J
authors.lastname: Filiano
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aoki
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Izumi
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsubara
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics*; D001483:Base Sequence / Q000235:genetics; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D050789:Glycine Dehydrogenase; D050841:Glycine Dehydrogenase (Decarboxylating); D006579:Heterozygote; D006801:Humans; D020158:Hyperglycinemia, Nonketotic / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D000594:Amino Acid Oxidoreductases; D050789:Glycine Dehydrogenase; D050841:Glycine Dehydrogenase (Decarboxylating)