Table 4 Elevated urine creatine levels and their follow-up investigations
From: Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
Urine creatine reference range per age groups | Number of elevated urine creatine levels in males and females | Elevated urine creatine range (mmol/mol creatinine) (median) |
|---|---|---|
Follow-up investigations | ||
0–60 months (reference range 14–830 mmol/mol creatinine) | Male | 838.0–3915.00 (1082.5) |
|  | N = 29 | Normal MRS n = 8 |
|  | No confirmatory follow-up investigations n = 9 | Normal genetic investigations for CRTR deficiency n = 12 |
|  | Female | 843.0–2333.0 (1190.0) |
|  | N = 25 | Normal MRS n = 6 |
|  | No confirmatory follow-up investigations n = 13 | Normal genetic investigations for CRTR deficiency n = 12 |
60–192 months (reference range 16–649 mmol/mol creatinine) | Male | 707.0–3518.0* (835) |
|  | N = 7 | Normal MRS n = 1 |
|  | No confirmatory follow-up investigations n = 3 | Normal genetic investigations for CRTR deficiency n = 2 |
|  |  | Diagnosis of CRTR deficiency n = 1 |
|  | Female | 657.0–8756.0** (885) |
|  | N = 9 | Normal MRS n = 1 |
|  | No confirmatory follow-up investigations n = 6 | Normal genetic investigations for CRTR deficiency n = 2 |
|  |  | Diagnosis of CRTR deficiency n = 1 |
192–228 months (reference range 19–173 mmol/mol creatinine) | Male | 531 |
|  | N = 1 | Normal genetic investigations for CRTR deficiency n = 1 |
|  | Female | Result = 186.0 |
|  | N = 1 |  |
|  | No confirmatory follow-up investigations n = 1 |  |