SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations

Abstract: Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis. We report a cohort of untreated patients with creatine transporter deficiency and abnormal plasma creatine panel results, characterized mainly by markedly decreased plasma creatinine. We conclude that plasma should be considered a viable specimen type for the biochemical diagnosis of this disorder, and abnormal results should be followed up with further confirmatory testing.

Parent Summary: This study challenges the current view that plasma testing is unreliable for diagnosing creatine transporter deficiency (CTD). While urine is typically preferred, the researchers report a group of untreated CTD patients who showed abnormal plasma creatine panel results, particularly very low plasma creatinine levels. These findings suggest that plasma can be a useful specimen for initial CTD screening. The authors recommend that abnormal plasma results should prompt further confirmatory testing, supporting a broader approach to biochemical diagnosis of CTD.

Link to article: https://www.sciencedirect.com/science/article/abs/pii/S1096719224002701?via%3Dihub

PubMed:  https://pubmed.ncbi.nlm.nih.gov/38531184/

Authors: Karen Sanders, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Amy White, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Matthew Schultz, Silvia Tortorelli, Patricia L. Hall

Key Terms: CTD, Clinical Study, Pediatric Patient, Male Patient, Diagnostic