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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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