Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia.
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.
Kure
Shigeo
S
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai 980-8574, Japan. skure@mail.cc.tohoku.ac.jp
Kojima
Kanako
K
Ichinohe
Akiko
A
Maeda
Tomoki
T
Kalmanchey
Rozalia
R
Fekete
György
G
Berg
Suzan Z
SZ
Filiano
Jim
J
Aoki
Yoko
Y
Suzuki
Yoichi
Y
Izumi
Tatsuro
T
Matsubara
Yoichi
Y
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*
D002352:Carrier Proteins; D000594:Amino Acid Oxidoreductases; D050789:Glycine Dehydrogenase; D050841:Glycine Dehydrogenase (Decarboxylating)