Use

This test provides quantitative analysis of creatine and guanidinoacetate in urine, which is useful for evaluating patients suspected of having inborn errors of creatine metabolism, such as Guanidinoacetate Methyltransferase deficiency (GAMT deficiency), Arginine:Glycine Amidinotransferase deficiency (AGAT deficiency), and Creatine Transporter deficiency (CTD). Creatine deficiency syndromes often lead to intellectual disabilities, seizures, and disturbances in cognitive speech. In cases of AGAT deficiency, there are typically low levels of guanidinoacetate and creatine in the tested samples, whereas GAMT deficiency shows increased levels of guanidinoacetate. Males with CTD present an increased creatine-to-creatinine ratio. Thus, this test aids in diagnosing these metabolic disorders by analyzing urine samples for the presence of specific metabolites.