Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
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RESEARCH
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders Shalini Bahl1, Dawn Cordeiro1, Lauren MacNeil2,3, Andreas Schulze1,4,5 and Saadet Mercimek‑Andrews1,4,5*
Abstract Background: Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders. Methods: We reviewed electronic patient charts for all patients that underwent urine creatine metabolite panel test‑ ing in the metabolic laboratory at our institution. Results: 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. Conclusion: 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. Keywords: Cerebral creatine deficiency syndromes, Creatine, Guanidinoacetate, Global developmental delay, Epilepsy Introduction Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine biosynthesis and transport. Two enzymes, arginine-glycine amidino transferase (AGAT) (EC 2.1.4.1) [encoded by GATM (MIM#602360)] and guanidinoacetate methyltransferase (GAMT) (EC#2.1.1.2) [encoded by GAMT (MIM#602360)] are required for the stepwise *Correspondence: [email protected] 1 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, USA Full list of author information is available at the end of the article
biosynthesis of creatine. Both enzyme deficiencies, AGAT (MIM#612718) and GAMT (MIM#612736) are inherited autosomal recessively. Circulating creatine is taken up by a sodium-dependent membrane bound creatine transporter (CRTR) [encoded by SLC6A8 (MIM#300036)] into high energy demanding tissues such as brain and muscle. CRTR deficiency (MIM#300352) results in an X-linked disorder. There have been
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