Hathaway Samantha C, Friez Michael, Limbo Kimberly, Parker Colette, Salomons Gajja S, Vockley Jerry, Wood Tim, Abdul-Rahman Omar A
Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
J Child Neurol. 2010 Aug;25(8):1009-12. doi: 10.1177/0883073809352109. Epub 2010 May 25.
X-linked creatine transporter defect is caused by mutations in SLC6A8 at Xq28, which encodes the sodium-dependent creatine transporter. Reduction in creatine uptake results in elevated urine creatine and CSF creatine deficiency, which can be detected on magnetic resonance spectroscopy. We report a patient who was initially suspected of having a mitochondrial disorder but was later found to have a creatine transporter defect. The abnormal laboratory study results seen in this patient suggesting a mitochondrial cytopathy could be due to excess mitochondrial stress as well as the mitochondrial inclusion bodies. This report looks at the mitochondrial presentation of the creatine transporter deficiency.
X连锁肌酸转运体缺陷由位于Xq28的SLC6A8基因突变引起，该基因编码钠依赖性肌酸转运体。肌酸摄取减少导致尿肌酸升高和脑脊液肌酸缺乏，这可通过磁共振波谱检测到。我们报告了一名最初怀疑患有线粒体疾病但后来发现存在肌酸转运体缺陷的患者。该患者出现提示线粒体细胞病的异常实验室检查结果可能是由于线粒体应激过度以及线粒体包涵体所致。本报告探讨了肌酸转运体缺乏的线粒体表现。
