Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, USA.
Metabolic Laboratory, Department of Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, USA.
Orphanet J Rare Dis. 2020 Dec 2;15(1):339. doi: 10.1186/s13023-020-01617-z.
Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
We reviewed electronic patient charts for all patients that underwent urine creatine metabolite panel testing in the metabolic laboratory at our institution.
There were 498 tests conducted on 413 patients. Clinical, molecular genetics and neuroimaging features were available in 318 patients. Two new patients were diagnosed with creatine transporter deficiency: one female and one male, both had markedly elevated urine creatine. Urine creatine metabolite panel was also used as a monitoring test in our metabolic laboratory. Diagnostic yield of urine creatine metabolite panel was 0.67% (2/297). There were six known patients with creatine transporter deficiency. The prevalence of creatine transporter deficiency was 2.64% in our study in patients with neurodevelopmental disorders who underwent screening or monitoring of CCDS at our institution.
Even though the diagnostic yield of urine creatine metabolite panel is low, it can successfully detect CCDD patients, despite many neurodevelopmental disorders are not a result of CCDD. To the best of our knowledge, this study is the first Canadian study to report diagnostic yield of urine creatine metabolite panel for CCDD from a single center.
脑肌酸缺乏症（CCDD）是肌酸合成和转运的遗传性代谢紊乱。尿肌酸代谢物谱有助于识别这些疾病。
我们回顾了我院代谢实验室进行尿肌酸代谢物谱检测的所有患者的电子病历。
共对 413 名患者进行了 498 次检测，318 名患者具有临床、分子遗传学和神经影像学特征。两名新患者被诊断为肌酸转运蛋白缺乏症：一名女性和一名男性，两者的尿肌酸均明显升高。尿肌酸代谢物谱也被用作我们代谢实验室的监测试验。尿肌酸代谢物谱的诊断率为 0.67%（2/297）。有 6 名已知的肌酸转运蛋白缺乏症患者。在我们的研究中，对在我院接受 CCDS 筛查或监测的神经发育障碍患者进行分析，肌酸转运蛋白缺乏症的患病率为 2.64%。
尽管尿肌酸代谢物谱的诊断率较低，但它可以成功检测到 CCDD 患者，尽管许多神经发育障碍并非 CCDD 所致。据我们所知，这是来自单一中心的针对 CCDD 的尿肌酸代谢物谱的首次加拿大研究报告诊断率。
