Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion

Pompe disease (PD), also defined as acid maltase deficiency, is a rare autosomal recessive disease that causes glycogen accumulation due to a deficiency of the lysosomal enzyme acid α-glucosidase. An excessive amount of undisposed glycogen causes progressive muscle weakness throughout the body. It p...

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Bibliographic Details
Main Authors: Daniela Marotto, Marta Moschetti, Alessia Lo Curto, Anna M. Spezzigu, Miriam Giacomarra, Emanuela M. Marsana, Carmela Zizzo, Giovanni Duro, Paolo Colomba
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:International Journal of Molecular Sciences
Subjects:
Late Onset Pompe Disease
misdiagnosis
metabolic myopathy
creatinine kinase value
Online Access:https://www.mdpi.com/1422-0067/24/21/15924

Internet

https://www.mdpi.com/1422-0067/24/21/15924

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