Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlation
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DOI：
10.1007/s003300101073
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发表时间：
2002-04-01
影响因子：
5.9
通讯作者：
Martin, E
中科院分区：
文献类型：
--
作者：
Huisman, TAGM;Thiel, T;Martin, E
非酮症高血糖(NKH)是由于甘氨酸裂解多酶复合体缺陷导致大脑和脊髓中甘氨酸浓度过高而引起的一种先天性氨基酸代谢错误。定量磁共振波谱(H-1-MRS)可以在体内测量大脑不同部位的甘氨酸绝对浓度。此外，H-1-MRS可能有助于监测NKH的治疗情况，并与其他甘氨酸代谢紊乱相鉴别。
Nonketotic hyperglycinemia (NKH) is an inborn error of amino acid metabolism caused by a defect in the glycine cleavage multienzyme complex resulting in high concentrations of glycine within the brain and spinal cord. Quantitative magnetic resonance spectroscopy (H-1-MRS) allows measurement of absolute glycine concentrations within different parts of the brain in vivo. In addition, H-1-MRS may be useful in monitoring treatment of NKH and to differentiate this disease from other disorders of glycine metabolism.