Wambach et al. predicted that the disease incidence of the ABCA3 variant ranged from 1:4000 to 1:17,000 in individuals of European and African descent, but this is likely an overestimate as not all missense variants are pathogenic and fewer babies with ABCA3 deficiency are identified each year than would be predicted [39]. This evidence concerns the gene ABCA3 and hyperinsulinemic hypoglycemia, familial, 4.