Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults
Glycine decarboxylase mutations: A distinctive phenotype of nonketotic hyperglycinemia in adults
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DOI：
10.1212/01.wnl.0000156800.23776.40
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发表时间：
2005-04-12
期刊：
影响因子：
9.9
通讯作者：
Degrauw, T
中科院分区：
文献类型：
--
作者：
Dinopoulos, A;Kure, S;Degrauw, T
对3名患有轻度高甘氨酸血症、婴儿肌张力减退、智力低下、行为过敏和攻击性爆发的无关成人患者进行了甘氨酸脱羧酶（GLDC）突变筛查，发现了两个新的错义突变（A389 V和R739 H），这两个突变在COS 7细胞中表达时具有正常GLDC活性的6 - 8%。
Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.