Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
Mol Genet Metab. 2012 Jan;105(1):155-8. doi: 10.1016/j.ymgme.2011.09.037. Epub 2011 Oct 6.
A 4-year-old female with history of developmental regression and autistic features was diagnosed with guanidinoacetate methyltransferase deficiency at age 21 months. Upon treatment, she showed improvements in her developmental milestones, sensorial-neural hearing loss and brain atrophy on cranial-MRI. The creatine/choline ratio increased 82% in basal ganglia and 88% in white matter on cranial MR-spectroscopy. The CSF guanidinoacetate decreased 80% after six months of ornithine and creatine supplementation and an additional 8% after 18 months of additional arginine restricted diet. We report the most favorable clinical and biochemical outcome on treatment in our patient.
一名 4 岁女性，有发育迟缓及自闭症特征病史，于 21 月龄时被诊断为鸟氨酸氨甲酰基转移酶缺乏症。经治疗后，她在发育里程碑、感觉神经听力损失和颅脑 MRI 脑萎缩方面均有改善。颅脑磁共振波谱显示，基底节的肌酸/胆碱比值增加了 82%，白质增加了 88%。在开始补充精氨酸、肌酸 6 个月后，CSF 中的胍基乙酸降低了 80%，18 个月后，在限制精氨酸饮食的情况下，又降低了 8%。我们报告了该患者在治疗中的最佳临床和生化转归。
