Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients

Shigeo Kure; Akiko Ichinohe; Kanako Kojima; Kenichi Sato; Zenro Kizaki; Fumio Inoue; Chutaro Yamanaka; Yoichi Matsubara

doi:10.1016/j.jpeds.2004.02.044

Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients

J Pediatr. 2004 Jun;144(6):827-9. doi: 10.1016/j.jpeds.2004.02.044.

Authors

Shigeo Kure¹, Akiko Ichinohe, Kanako Kojima, Kenichi Sato, Zenro Kizaki, Fumio Inoue, Chutaro Yamanaka, Yoichi Matsubara

Affiliation

¹ Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan. skure@mail.tains.tohoku.ac.jp

PMID: 15192636
DOI: 10.1016/j.jpeds.2004.02.044

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Oxidoreductases / genetics*
DNA Mutational Analysis
Female
Gene Expression Profiling
Glycine Dehydrogenase (Decarboxylating)
Humans
Hyperglycinemia, Nonketotic / diagnosis
Hyperglycinemia, Nonketotic / genetics*
Infant, Newborn
Japan
Phenotype
Prognosis

Substances

Amino Acid Oxidoreductases
Glycine Dehydrogenase (Decarboxylating)