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Table 3  Abnormal urine guanidinoacetate levels and their follow-up investigations

From: Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Age groups and reference ranges Elevated guanidinoacetate Low guanidinoacetate
Number (range) Number (range)
Follow-up investigations Follow-up investigations
0–60 months (reference range 5–150 mmol/mol creatinine) N = 15 N = 0
  (range = 158.0–281.0; median 180.0)  
  Normal genetic investigations for GAMT deficiency n = 5  
  Normal MRS and normal genetic investigations for GAMT deficiency n = 2  
  No confirmatory follow-up investigations n = 8  
60–192 months (reference range 15–130 mmol/mol creatinine) N = 7 N = 6
  (range = 132.0–573.0; median 153.0) (range = 1.000–12.000; median 9)
  Normal MRS n = 2 Normal MRS n = 1
  Normal genetic investigations for GAMT deficiency n = 3 Normal genetic investigations for AGAT deficiency n = 2
  No confirmatory follow-up investigations n = 2 No confirmatory follow-up investigations n = 3
192–228 months (reference range 11–60 mmol/mol creatinine) N = 3 N = 0
  (range = 65.00–97.00; median 88.5)  
  Normal genetic investigations for GAMT deficiency n = 1  
  No confirmatory follow-up investigations n = 2  
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