Retrospective analysis reveals severe cardiomyopathy and novel GAA mutations in infantile glycogen storage disease type II, highlighting early genetic testing.
Key Points
Infantile glycogen storage disease type II presented with progressive hypotonia, motor delay, and fatal cardiomyopathy, with all five patients dying before one year of age.
Ejection fractions ranged from 44% to 67% with elevated creatine kinase, while genetic testing identified 12 GAA gene variants, including six previously unreported mutations.
Retrospective analysis of clinical data from five pediatric cases highlights peripheral blood GAA gene and alpha-glucosidase enzyme activity testing for rapid definitive diagnosis.