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.
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CERES BRAIN THERAPEUTICS, ICM, Hôpital Pitié-Salpêtrière, 47 boulevard de l'Hôpital, 75013 Paris, France; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé (MTS), SPI, LENIT, Gif-sur-Yvette, Cedex 91191, France. Electronic address:
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