Evaluation of patients with a clinical suspicion of inborn errors of creatine metabolism including arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter (SLC6A8) defect
Depletion of cerebral creatine occurs in all 3 types of creatine deficiency syndromes (CDS): arginine:glycine amidinotransferase (AGAT) deficiency, guanidinoacetate methyltransferase (GAMT) deficiency, and creatine transporter (SLC6A8) deficiency.
Measurement of guanidinoacetate (GAA), creatine (Cr), and creatinine (Crn) in urine along with the Cr:Crn ratio distinguishes among the types of creatine deficiency syndromes.
Treatment with oral creatine supplementation is effective in some types of CDS.
Creatine supplementation may cause increased creatine values.
CRDPU / Creatine Disorders Panel, Urine is a single test that carries the results for the panel. When the test is resulted, the following procedures are billed:
-CRBO / Creatine, Urine (Bill Only)
-CRNBO / Creatinine, Urine (Bill Only)
-GAABO / Guanidinoacetate, Urine (Bill Only)
For more information, see Newborn Screening Act Sheet Guanidinoacetate Methyltransferase Deficiency: Increased Guanidinoacetate in Special Instructions.
The following algorithms are available in Special Instructions:
-Newborn Screen Follow-up for Guanidinoacetate Methyltransferase Deficiency (GAMT)
-Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm in Special Instruction
