Gabis L, Parton P, Roche P, Lenn N, Tudorica A, Huang W
Department of Neurology, State University of New York at Stony Brook 11794-8640, USA.
J Neuroimaging. 2001 Apr;11(2):209-11. doi: 10.1111/j.1552-6569.2001.tb00036.x.
Nonketotic hyperglycinemia (NKH) is an autosomal recessive disorder of glycine metabolism. Defective glycine cleavage causes elevated concentrations of glycine in plasma, urine, and cerebrospinal fluid. A longitudinal study using magnetic resonance imaging (MRI) and single-voxel 1H magnetic resonance spectroscopy (MRS) was performed on an infant with the typical clinical picture of NKH. He was examined twice during the course of treatment with sodium benzoate and dextromethorphan. At the age of 10 months, MRI showed normal brain structure, while MRS detected a prominent glycine peak in the brain. Repeat MRS at the age of 13 months showed a small increase in glycine peak and a prominent glutamate/glutamine peak not previously detected. The MRS measurements were consistent with the slight increase in blood glycine level and the elevation in glutamine level, indicating that 1HMRS can be a valuable tool in the diagnosis and monitoring of treatment effects in patients with NKH.
非酮症高甘氨酸血症（NKH）是一种常染色体隐性遗传的甘氨酸代谢紊乱疾病。甘氨酸裂解缺陷导致血浆、尿液和脑脊液中甘氨酸浓度升高。对一名具有典型NKH临床表现的婴儿进行了一项使用磁共振成像（MRI）和单体素氢质子磁共振波谱（MRS）的纵向研究。在使用苯甲酸钠和右美沙芬治疗过程中对其进行了两次检查。10个月大时，MRI显示脑结构正常，而MRS检测到脑中甘氨酸峰突出。13个月大时重复进行MRS检查显示甘氨酸峰略有增加，且出现了一个之前未检测到的突出的谷氨酸/谷氨酰胺峰。MRS测量结果与血液中甘氨酸水平的轻微升高和谷氨酰胺水平的升高一致，表明氢质子磁共振波谱可成为NKH患者诊断及治疗效果监测的一项有价值的工具。
