首页    期刊浏览 2024年11月27日 星期三
登录注册

文章基本信息

  • 标题:Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia
  • 本地全文:下载
  • 作者:Shin, Ji Hun ; Ahn, So Yoon ; Shin, Jeong Hee
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2012
  • 卷号:55
  • 期号:8
  • 页码:301-305
  • DOI:10.3345/kjp.2012.55.8.301
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the scarcity and poor prognosis of this disease. In the current study, we present a patient with NKH diagnosed on the basis of clinical features, biochemical profiles, and genetic analysis. Magnetic resonance spectroscopy (MRS) allowed the measurement of absolute glycine concentrations in different parts of the brain that showed a significantly increased glycine peak, consolidating the diagnosis of NKH. In additional, serial MRS follow-up showed changes in the glycine/creatinine ratios in different parts of the brain. In conclusion, MRS is an effective, noninvasive diagnostic tool for NKH that can be used to distinguish this disease from other glycine metabolism disorders. It may also be useful for monitoring NKH treatment.

  • 关键词:Nonketotic hyperglycinemia; Magnetic resonance spectroscopy; Glycine decarboxylase
国家哲学社会科学文献中心版权所有