I can’t reliably pull current “latest news” items right now, but I can share the most recent-to-ongoing, well-sourced developments about Glycogen storage disease type II (Pompe disease, GSD II) that are widely covered in the medical literature and regulatory updates.
Pompe disease is caused by deficiency of acid α-glucosidase (GAA), and management includes enzyme replacement therapy (ERT).[2][5] Regulatory decisions in recent years have expanded access to specific ERTs in different regions (e.g., avalglucosidase alfa authorization in the EU/US and later cipaglucosidase alfa authorization in the EU/US).[4]
Clinical reviews and studies continue to emphasize that Pompe disease has a broad spectrum (infantile vs. late-onset), and response to ERT may differ across patients.[5][2]
Recent clinical/genetic reports continue to describe cohorts of infantile Pompe cases and characterize mutations, clinical presentations, and outcomes—supporting earlier diagnosis and better patient management.[7] Research also keeps focusing on functional and respiratory outcomes and how to monitor progression and treatment response in late-onset disease.[2]
If you tell me:
Glycogen storage disease type II (GSD II) is characterized clinically by severe muscle weakness, moderate hepatomegaly, and substantial cardiac enlargement in an infant who appeared "healthy" at birth (see page 622). Hypotonia and cardiomegaly are so extreme that they cannot be missed. This ease of...
jamanetwork.comGlycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile ...
pmc.ncbi.nlm.nih.govGlycogen storage disease type II (GSDII) is an autosomal recessive lysosomal disorder caused by mutations in the gene encoding alpha-glucosidase (GAA). The disease can be clinically classified into three types: a severe infantile form, a juvenile and an adultonset form. Cases with juvenile or adult …
pubmed.ncbi.nlm.nih.govNews and Articles Updates of interest to the GSD community Latest News & Articles Past News & Articles
agsdus.orgMethods of treating glycogen storage disease type II, by administering acid α-glucosidase, are described, as are compositions for use in treatment of glycogen storage disease type II.
patents.google.comGlycogen storage disease type II has a broad continuous clinical spectrum in terms of onset, involvement of organs and life expectancy. Infantile onset is the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and ...
pmc.ncbi.nlm.nih.govGlycogen storage disease type II, also known as Pompe disease, is a rare and progressive neuromuscular disorder inherited in an autosomal recessive manner. This disease results from a deficiency of the enzyme acid α-glucosidase (GAA), causing impairment in the degradation of glycogen within the lyso …
pubmed.ncbi.nlm.nih.govClinical and genetic mutation analysis was performed on 5 infantile glycogen storage disease type II children in Chinese mainland. Clinical data of 5 children with infantile-type glycogen storage disease type II due to the acidic α-glucosidase (GAA) ...
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