具有典型新生儿表现的非酮症高甘氨酸血症轻度变异型：两名患者的突变及体外表达分析

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

作者信息

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

机构信息

Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.

出版信息

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

DOI:10.1016/j.jpeds.2004.02.044

PMID:15192636

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.

摘要

在新生儿期发病的非酮症高甘氨酸血症中，严重的精神运动发育迟缓是预期的一致结果。我们报告了两名具有典型新生儿表现的患者，他们的发育结果要好得多。对已鉴定的GLDC突变进行的体外表达分析显示出相当程度的残余酶活性，这表明即使在新生儿期发病的非酮症高甘氨酸血症中也存在预后和酶活性的异质性。