부산대학교 도서관

Background Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance. Case Presentation An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted. Born healthy, her sibling died from Pompe disease. She presented with cardiomegaly, hypotonia, and absent reflexes. Diagnosis was confirmed by significantly reduced GAA activity. Despite treatment initiation, the patient succumbed to cardiac arrest. Conclusions The case underscores genetic counseling's role, offering insights into prenatal testing advancements, antenatal diagnosis through echocardiography, and the significance of early intervention, particularly in infantile-onset Pompe disease. Synopsis Genetic risk assessment and prenatal testing are crucial for families with a history of Pompe disease to improve early diagnosis and management outcomes. Keywords: Pompe disease, Glycogen Storage Disease type II, Alpha-glucosidases, Family Planning services, Genetic counselling, Prenatal diagnosis
Author(s): Yasaman Alizadeh[sup.1], Hossein Saidi[sup.2], Vahid Saeedi[sup.1] and Leila Kamalzadeh[sup.3] Introduction Pompe disease, classified as glycogen storage disease type II, is an infrequent metabolic disorder resulting from a deficiency of [...]