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Diagnosis, management and monitoring of patients with Pompe disease in the UK [PDF]
BMJ Neurology OpenPompe disease is a rare, inherited metabolic disorder characterised by lysosomal acid alpha-glucosidase deficiency. The disease is classified into infantile-onset and late-onset forms and is treated with enzyme replacement therapy.
Jordi Diaz-Manera +8 more
doaj +2 more sources
Lessons Learned from Pompe Disease Newborn Screening and Follow-up
International Journal of Neonatal Screening, 2020 In 2015, Pompe disease became the first lysosomal storage disorder to be recommended for universal newborn screening by the Secretary of the U.S. Department of Health and Human Services.
Tracy L. Klug +4 more
doaj +3 more sources
Longitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study. [PDF]
J Cachexia Sarcopenia MuscleABSTRACT Background Late‐onset Pompe disease (LOPD) is a progressive metabolic myopathy characterised by lysosomal glycogen accumulation and leading to secondary disruptions in autophagy and cellular energy metabolism. While enzyme replacement therapy (ERT) has improved outcomes, early detection remains critical, because irreversible muscle damage ...
De Lorenzo A +11 more
europepmc +2 more sources
Newborn Screening for Pompe Disease [PDF]
International Journal of Neonatal Screening, 2020 Glycogen storage disease type II (also known as Pompe disease (PD)) is an autosomal recessive disorder caused by defects in α-glucosidase (AαGlu), resulting in lysosomal glycogen accumulation in skeletal and heart muscles. Accumulation and tissue damage rates depend on residual enzyme activity.
Kimitoshi Nakamura +2 more
exaly +4 more sources
Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease [PDF]
International Breastfeeding JournalBackground Pompe disease is an autosomal recessively inherited lysosomal storage disorder, caused by enzyme deficiency of acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in lysosomes and subsequent muscle dysfunction ...
Magdalena Bachmann +7 more
doaj +2 more sources
Validation and standardization of a fluorometric method for alpha glucosidase activity assay in the detection of Pompe disease [PDF]
Reviews in Clinical Medicine, 2023 Introduction: Pompe Disease is a type of lysosomal storage disease that is caused by a deficiency of the lysosomal alpha glucosidase. Pompe disease, as a multi-systemic disorder has a broad spectrum of clinical symptoms.
Armin Mokhtariye +4 more
doaj +1 more source
Current status of newborn screening for Pompe disease in Japan
Orphanet Journal of Rare Diseases, 2021 Background Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle.
Takaaki Sawada +11 more
doaj +1 more source
Establishing Pompe Disease Newborn Screening: The Role of Industry
International Journal of Neonatal Screening, 2020 When clinical trials for enzyme replacement therapy for Pompe disease commenced, a need for newborn screening (NBS) for Pompe disease was recognized. Two methods for NBS for Pompe disease by measuring acid α-glucosidase in dried blood spots on filter ...
Joan M. Keutzer
doaj +1 more source
Frontiers in Neurology, 2023 ObjectiveWe retrospectively screened 350,116 electronic health records (EHRs) to identify suspected patients for Pompe disease. Using these suspected patients, we then describe their phenotypical characteristics and estimate the prevalence in the ...
Simon Lin +12 more
doaj +1 more source