{Reference Type}: Journal Article
{Title}: SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
{Author}: Sanders K;Peck D;Bentz Pino G;Studinski Jones A;White A;Gavrilov D;Matern D;Oglesbee D;Schultz M;Tortorelli S;Hall PL;
{Journal}: Mol Genet Metab
{Volume}: 142
{Issue}: 1
{Year}: 2024 May 24
{Factor}: 4.204
{DOI}: 10.1016/j.ymgme.2024.108455
{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.