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 |  |