TY - JOUR
T1 - Mild variant of nonketotic hyperglycinemia with typical neonatal presentations
T2 - Mutational and in vitro expression analyses in two patients
AU - Kure, Shigeo
AU - Ichinohe, Akiko
AU - Kojima, Kanako
AU - Sato, Kenichi
AU - Kizaki, Zenro
AU - Inoue, Fumio
AU - Yamanaka, Chutaro
AU - Matsubara, Yoichi
N1 - Funding Information:
Supported by grants from the Ministry of Education, Science, Sports, and Culture and the Ministry of Health and Public Welfare, Japan.
PY - 2004/6
Y1 - 2004/6
N2 - 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.
AB - 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.
KW - DQ
KW - Developmental quotients
KW - GCS
KW - GLDC
KW - Glycine cleavage system
KW - Glycine decarboxylase
KW - N-methyl-D-aspartate
KW - NKH
KW - NMDA
KW - Nonketotic hyperglycinemia
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U2 - 10.1016/j.jpeds.2004.02.044
DO - 10.1016/j.jpeds.2004.02.044
M3 - Article
C2 - 15192636
AN - SCOPUS:3042799523
SN - 0022-3476
VL - 144
SP - 827
EP - 829
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 6
ER -