Table 4 Missing data for select ascertainment and diagnosis among participants with complete minimum dataset information (n = 764)

Across all CIMDRN-targeted diseases

Ascertainment method (e.g., by NBS, family history, etc.)

Number of visits to metabolic clinic to determine diagnosis

Age at diagnosis

Centre where diagnosis was established

For those not ascertained by NBS (n = 138), was a NBS test done?^a

For those ascertained by NBS (n = 626), was the NBS test positive for the diagnosed disease?^a

For those whose NBS test was positive (n = 620), date of NBS test positive/referral^a

For those diagnosed symptomatically (n = 125), age at first symptom^a

For those diagnosed symptomatically (n = 125), presenting symptoms^a

 PAH deficiency (n = 215)

Plasma amino acid profile

 MCAD deficiency (n = 127)

Acylcarnitine profile

 VLCAD deficiency (n = 33)

Acylcarnitine profile

 MPS type I (n = 18)

α-L-iduronidase activity