Clinical and Genetic Characterization of Late-Onset Pompe Disease in an Adolescent Carrying a Rare GAA Coding Mutation
DOI:
https://doi.org/10.47363/JPRRR/2026(8)195Keywords:
Pompe Disease, Glycogen Storage Disease Type II, Genetic Mutation, Neuromuscular Disorders, Case Report, Enzyme Replacement TherapyAbstract
Background: Pompe disease (Glycogen Storage Disease Type II) is a rare autosomal recessive neuromuscular disorder caused by acid α-glucosidase (GAA) deficiency. Late-onset Pompe disease (LOPD) exhibits variable clinical presentations, often delaying diagnosis.
Case Report: We describe a 12-year-old male presenting with progressive proximal lower limb weakness, exercise intolerance, and persistent hyperCKemia. Neurological examination revealed macroglossia and mild proximal hypotrophy. EMG showed a myopathic pattern. Biochemical testing revealed markedly alfa, resulting in modest functional improvement. reduced GAA activity, and genetic analysis confirmed compound heterozygosity for c.2480_2426del (rare frameshift) and c.-32-13T>G (common LOPD splicing mutation). Pulmonary assessment indicated diaphragmatic weakness. The patient was initiated on enzyme replacement therapy with avalglucosidase
Conclusion: This case highlights the importance of early recognition, enzymatic testing, and genetic confirmation in pediatric LOPD, particularly in patients harboring rare or underreported mutations.
