Document Type : Original Research Papers
Authors
1
Assistant professor of Pediatric, Faculty of Medicine, Benha University, Benha, Egypt
2
Professor of Pediatrics, Faculty of Medicine, Benha University, Benha, Egypt
3
National Heart Institute, Cairo, Egypt
4
Pediatric Department, Faculty of Medicine, Benha University, Benha, Egypt
5
Lecturer of Cardiology, Faculty of Medicine, Benha University, Benha, Egypt
Abstract
Hereditary glycogen storage disorders (GSDs) manifest as abnormalities in glycogen types or deposits in tissues and are caused by a deficiency in one or more enzymes involved in glycogen production or breakdown. Hereditary glycogen storage disorders (GSDs) manifest as abnormalities in glycogen types or deposits in tissues and are caused by a deficiency in one or more enzymes involved in glycogen production or breakdown. These illnesses are considered uncommon due to their very low prevalence. An estimated 1 case per 2,000–43,000 live births is the total incidence of GSDs. Twelve different kinds of GLDs, all of which are inherited in an autosomal recessive fashion, have been recognized as a result of human enzyme deficiencies. The hereditary unusual enzyme shortage may impact several organs and tissues, including the brain, skeletal muscles, heart, kidneys, and liver. Our research will use speckle tracking echocardiography to determine how GSDs influence the anatomy and function of the heart. To identify early myocardial involvement in young patients with GSDs, longitudinal myocardial left ventricular strain evaluated with speckle tracking is a promising method. This data has significant therapeutic value since it enables early diagnosis and therapy of myocardial dysfunction.
Keywords
Main Subjects
)
View on SCiNiTO