Latest News About Glycogen Storage Disease Type Ii

Updated 2026-05-23 06:03

I can’t reliably fetch latest news right now, but here are well-sourced, recent-ish research directions and updates around Glycogen Storage Disease Type II (GSD II), also called Pompe disease—especially the areas that commonly generate “latest news” (new therapies, approvals, and clinical development).[2][4]

Where the current “news” focus usually is

High-level treatment context (what articles/news tend to update)

If you want truly “latest news”

Tell me what you mean by “latest” (e.g., “last 7 days”, “last month”, or “since 2025”) and your preferred sources (English only? Brazil/Portuguese? FDA/EMA/clinicaltrials?). Then I can summarize the newest items and group them by: clinical trials, regulatory approvals, and major research publications.

Sources

Clinical features and genetic analysis of 5 cases of infantile ...

Clinical 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) ...

pmc.ncbi.nlm.nih.gov

Doença de armazenamento de glicogénio por deficiência na ramificação do glicogénio

Não há tratamento específico. Nas formas graves mas sem doença cardíaca associada pode ser proposto o transplante hepático. O prognóstico é desfavorável para os doentes com início perinatal e nas formas clássicas que não são submetidas a transplante hepático. O prognóstico a longo prazo para outras formas de apresentação depende da extensão, gravidade e progressão da doença.Atualizado em: setembro 2009 - Editor(es) Dr Roseline FROISSART

www.orpha.net

Glycogen Storage Disease Type II

Glycogen 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 lysosomes of the muscular tissue.

www.ncbi.nlm.nih.gov

Progress in Enzyme Replacement Therapy in Glycogen Storage ...

Glycogen 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.gov