Introduction and objective: Pompe disease (PD) is a genetic and metabolic disorder caused by a mutation in the GAA gene, which leads to a deficiency of acid alpha-glucosidase and glycogen deposition in lysosomes. The aim of the study is to review the genetic mechanisms, diagnostic approaches, and potential treatments for PD to improve our understanding and develop effective interventions. Review methods: The review examines articles from databases like PubMed, Google Scholar, Clinicaltrials.gov, and NCBI. Meta-analyses, randomized controlled trials, and research articles on PD, diagnosis and therapy were included after initial analysis. More than 95% of the articles are less than eight-years-old. Brief description of the state of knowledge: Pompe disease has been a known clinical condition for almost a century, presenting challenges for diagnosis and treatment. Diagnosis can be difficult due to its similarity to other neuromuscular disorders. However, confirmation of the diagnosis can be achieved through enzymology and molecular genetic testing. The current treatment for PD is enzyme replacement therapy using recombinant human alpha-glucosidase. Ongoing research aims to develop improved or new enzymes, as well as other treatments, such as gene therapy and substrate reduction strategies. Early diagnosis and treatment are crucial. Neonatal screening is recommended. Summary: Despite advancements in understanding the pathogenesis of PD, the genetic mechanisms underlying its phenotypic variations remain unclear. Reporting cases to databases is crucial for unravelling the molecular basis of symptoms and improving patient outcomes. New therapeutic approaches, such as modified enzyme replacement therapies and gene editing, are essential for overcoming current limitations and improving treatment efficacy in PD. Key words: Pompe disease, Glycogen Storage Disease Type II, genetic therapy, enzyme replacement therapy