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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  
  1. *Maximum value is male patient identified with CRTR without therapy
  2. **Maximum value is female patient identified with CRTR with therapy