Epidemiology, prevalence and effectiveness
  
Base case

Test Specificity (including confirmation by enzyme analysis)

Point estimate

1

Assumption

Test Sensitivity

Triangular

Mode 0.945 (minmax 0.90.99)

[1, 3]

Prevalence based on positive test result

Triangular

Mode: 1 in 112,700, (minmax 1 in 129,455 – 1 in 95,953)

[1]

Probability of early diagnosis before the onset of sMD

Triangular

Mode 0.15 (minmax 0.120.18)

[3]

Probability that severe movement disorder develops in previously diagnosed children

Triangular

Mode 0.115 (minmax 0.0920.138)

[1]

Probability that severe movement disorder occur following clinical manifestation

Triangular

Mode 0.74 (minmax 0.5920.888)

[28]

Life expectancy of healthy population

Point estimate

79.45 years

[29]

Life expectancy in asymptomatic persons with GAI

Equal to life expectancy of healthy population

Assumption

Life expectancy in impaired health state

Uniform

Minmax 25–45 years

[3]

Cost Assessment
   
A) Direct screening cost, including genetic and enzymatic confirmation studies

Initial medical cost for children experiencing an acute encephalopathic crisis

Triangular

Mode 3000 (minmax 2000–8000)

Assumption, based on year 2010 German DRG reimbursement

Cost for genetic and enzymatic confirmation studies

Point estimate

865

Primary data

Direct screening cost per neonate

Point estimate

0.031

Calculated, based on [30]

B) Cost for medical and dietary treatment in persons with GAl

Cost per outpatient visit

Triangular

Mode 127 (minmax 88.9 165.1)

Primary data

Cost per inpatient treatment

Triangular

Mode 1335 (minmax 934.5  1735.5)

Primary data

Number of outpatient treatments per year

Point estimate

Agedepending

[10]

Number of inpatient treatments per year

Point estimate

Agedepending

[10]

Cost for basic dietary treatment per year

Point estimate

Agedepending

[10]

C) Cost associated with severe movement disorder

Annual cost for special schooling (included for age 6 to 16)

Triangular

Mode 5689 (minmax 0–11369)

Assumption, based on [31]

Annual cost for special care, starting after age of 6

Triangular

Mode 2700 (minmax 1890–3510)

Assumption, based on [32]

Annual overhead cost in case of severe movement disorder

Uniform

Minmax 03000

Assumption
