To set the core set of infantile Pompe disease in the future, the purpose of this study was to describe the health status problems and environmental factors and the effectiveness of ERT for children with infantile Pompe disease comprehensively and linked the symptoms to the categories of the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY). A systematic review has been conducted from the databases of Medline, PubMed, CINAHL, Cochrane and CEPS from 2000 to 2009. Key words were phrases related to Pompe disease, signs and symptoms, enzyme replacement therapy (ERT). Subjects were under 5 years old. The clinical symptoms described by 20 articles could be linked to 24 second level categories in Body Function and Structure component, 5 first level categories in Activity and Participation component, and 6 second level categories in Environmental factors of ICF-CY. The outcomes of ERT reported by 13 articles could be linked to 13 second level categories in Body Function and Structure component, 5 first level categories in Activity and Participation component, and 1 second level category in Environmental factors. All the health status and the outcome measures of the infantile Pompe disease could be linked to first level or second level categories of the ICF-CY. Children's cardiopulmonary, neuromuscular, sensory, and digestive body function and structures were described more comprehensively than the limitations in their learning, communication, mobility, self care, and interpersonal activities. Less information were concerned about the environmental factors. ERT is effective on increasing survival rates, improving cardiopulmonary and neuromuscular functions as well as daily activities in short term. However, no article explored the interactions between environmental factors and activity limitations. The establishment of core set in the Pompe disease is feasible. Future studies are needed to examine the whole health status and environmental conditions of Pompe children and to investigate the long term effects of ERT on the health status and their families.