Creatine Biosynthesis Disorders Panel, Urine

Use

This test is designed to assist in diagnosing inherited disorders of creatine metabolism, including cerebral creatine deficiency syndrome, AGAT deficiency, GAMT deficiency, and creatine transporter deficiency. It provides measurement of key metabolites in the creatine biosynthesis pathway such as guanidinoacetate, creatine, creatinine, and the creatine/creatinine ratio in urine.