Unifying the Communities of Early‐Onset Glycogen Storage Disease Type <scp>IV</scp> and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <scp> <i>GBE1</i> </scp> ‐Related Disease

and calculated prevalence across nine genetic ancestry groups. The estimated global carrier frequency of GSD IV is 1 in 243 individuals, and the global genetic prevalence is 1 in 235 784 individuals. Based on the 2024 world population, the estimated number of affected individuals with GSD IV is approximately 34 800. These estimates highlight a significant underdiagnosis of GSD IV and underscore the urgent need for increased awareness of this metabolic disorder. This model of collaboration between researchers, patient advocacy organizations, and genetic data sharing programs provides a framework for estimating the prevalence of other rare diseases in the global population.