Figure 1.

Simplified schematic for Pompe disease model.

^aNo known increased risk for Pompe disease.

^bLow/“absent” GAA enzyme.

^cVia DNA sequencing, or referral to specialist.

^dRepeat screen on a new blood spot (Screen 2).

^eAssumed that some proportion of Pompe disease cases would not be detected under clinical identification.

^fAssumed to late-onset cases only.

^gSurvival outcomes further categorized as either “ventilator free” or “ventilator dependent.”