新生儿丙酮酸脱氢酶缺乏症中通过磁共振波谱检测到的体内丙酮酸
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
作者信息
Zand Dina J, Simon Erin M, Pulitzer Steven B, Wang D J, Wang Z J, Rorke Lucy B, Palmieri Michael, Berry Gerard T
机构信息
Division of Human and Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
出版信息
AJNR Am J Neuroradiol. 2003 Aug;24(7):1471-4.
Abstract
We present a unique finding of an elevated level of pyruvate at 2.37 ppm revealed by in vivo MR spectroscopy of a female neonate. Low fibroblast pyruvate dehydrogenase (PDH) complex activity subsequently confirmed a diagnosis of PDH deficiency. Abnormalities of brain development consistent with PDH deficiency were also evident on fetal and postnatal MR images. To our knowledge, this is the first report of pyruvate being shown in vivo in a child and the first report of MR spectroscopy aiding in the diagnosis of inborn error in pyruvate metabolism before confirmation by conventional enzymatic testing. This finding has potential implications for earlier diagnosis in patients with defects in mitochondrial metabolism.
摘要
我们展示了一项独特的发现，通过对一名女性新生儿进行体内磁共振波谱分析，发现丙酮酸水平在2.37 ppm处升高。随后，成纤维细胞丙酮酸脱氢酶（PDH）复合物活性低下证实了PDH缺乏症的诊断。胎儿期和出生后的磁共振图像上也明显可见与PDH缺乏症相符的脑发育异常。据我们所知，这是首次在儿童体内活体显示丙酮酸，也是首次在通过传统酶学检测确认之前，利用磁共振波谱分析辅助诊断丙酮酸代谢先天性缺陷的报告。这一发现对线粒体代谢缺陷患者的早期诊断具有潜在意义。
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