Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
Shalini Bahl1, Dawn Cordeiro1, Lauren MacNeil2,3
1Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, USA.
Orphanet Journal of Rare Diseases
|December 3, 2020
Summary
The urine creatine metabolite panel can detect cerebral creatine deficiency disorders (CCDD), despite a low diagnostic yield. This study is the first in Canada to report on the diagnostic yield of this test for CCDD.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Cerebral creatine deficiency disorders (CCDD) are inherited metabolic conditions affecting creatine synthesis and transport.
- A urine creatine metabolite panel aids in identifying these rare disorders.
Purpose of the Study:
- To evaluate the diagnostic yield of the urine creatine metabolite panel for diagnosing CCDD.
- To determine the prevalence of creatine transporter deficiency in patients with neurodevelopmental disorders.
Main Methods:
- Retrospective review of electronic patient charts for individuals who underwent urine creatine metabolite panel testing.
- Analysis of clinical, molecular genetics, and neuroimaging data for diagnosed patients.
Main Results:
- The urine creatine metabolite panel identified two new cases of creatine transporter deficiency, with markedly elevated urine creatine levels.
- The diagnostic yield of the panel was 0.67% (2/297) for new diagnoses.
- The prevalence of creatine transporter deficiency was 2.64% among patients with neurodevelopmental disorders screened or monitored for CCDD.
Conclusions:
- The urine creatine metabolite panel, despite its low diagnostic yield, is effective in detecting CCDD.
- This study represents the first Canadian report on the diagnostic yield of the urine creatine metabolite panel for CCDD from a single center.
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