Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
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.
Kure
Shigeo
S
Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan. skure@mail.tains.tohoku.ac.jp
Ichinohe
Akiko
A
Kojima
Kanako
K
Sato
Kenichi
K
Kizaki
Zenro
Z
Inoue
Fumio
F
Yamanaka
Chutaro
C
Matsubara
Yoichi
Y
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
D000594:Amino Acid Oxidoreductases; D050841:Glycine Dehydrogenase (Decarboxylating)