Pompe disease

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http://youtube.com/watch?v=7wi1kuO9qPY

In this video, we discuss the clinical features, diagnostic approach, and treatment for Pompe disease. • Pompe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme. The lack of the GAA enzyme results in the accumulation of lysosomal glycogen in skeletal and cardiac muscle. Clinically, there are 2 forms of Pompe disease: early-onset and late-onset. Early-onset Pompe presents with infantile hypotonia and cardiac hypertrophy, often within the first several months of life. Late-onset Pompe disease, in contrast, does not typically present with cardiac involvement, though can present with skeletal muscle weakness (including the diaphragm, which can result in respiratory insufficiency). Newborn screening for Pompe disease aims to identify affected infants so that treatment with enzyme replacement therapy can begin as soon as possible. Without treatment, most newborns affected with early-onset Pompe will die within the first year of life. • More info about Pompe disease can be found here: • ACMG ACT Sheets and Algorithms: https://www.ncbi.nlm.nih.gov/books/NB... • GeneReviews article on Pompe disease: https://www.ncbi.nlm.nih.gov/books/NB... • Pompe disease diagnosis and management guideline: • https://www.ncbi.nlm.nih.gov/pmc/arti... • Newsletter post with 2 board-style questions on this topic: • https://studyrare.substack.com/p/2024... • Please consider supporting my rare disease education efforts by subscribing to the StudyRare newsletter, where I share board-style questions for ABMGG and ABGC exams each month: https://studyrare.substack.com/ • You can also support this channel by subscribing to this YouTube channel, following me on Twitter/X (@studyrare), or buying me a coffee: https://ko-fi.com/studyrare • Thank you! • Daniel

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