Glycogen storage disease due to acid maltase deficiency, late-onset

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Synonyms: Alpha-1,4-glucosidase acid deficiency, late-onset | GSD due to acid maltase deficiency, late-onset | GSD type 2, late-onset | GSD type II, late-onset | Glycogen storage disease type 2, late-onset | Glycogen storage disease type II, late-onset | Glycogenosis type 2, late-onset | Glycogenosis type II, late-onset | Pompe disease, late-onset

A form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle leading to slowly progressive muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year as well as all cases with symptom onset above the age of 1 year.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version July 2024

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Advocacy Organizations

Canadian Society for Mucopolysaccharide & Related Diseases Inc.

The Canadian Society for Mucopolysaccharide and Related Diseases Inc. (The Canadian MPS Society), founded in 1984, serves all Canadians affected by MPS and related diseases through support, education, advocacy and by advancing research.

Emory Lysosomal Storage Disease Center

The Emory Lysosomal and Peroxisomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment providing comprehensive and compassionate care for all of our patients affected by lysosomal storage diseases.

Grant’s Giants Pompe Awareness Nonprofit

To serve, educate, advocate, and support the Pompe community both locally and nationally. Grant's Giants will offer scholarships to pediatric Pompe families to attend the Pediatric Pompe Conference at Duke and be seen by the Pompe clinical and research team at Duke, fund durable medical equipment for Pompe patients, host an annual Pompe Family Meet Up, and advocate for newborn screening.

Lysosomal Storage Disorders Society – Pakistan

LSD Society Pakistan is a registered Non-Profit organization set up by a group of parents dedicated and committed to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public. The objective of LSD Society is to advocate with the government and other stakeholders to establish a sustainable healthcare system

Lysosomal Storage Disorders Support Society

LSDSS endeavors to transform the life of children affected by rare Lysosomal Storage Disorders. Our mission is to increase awareness about the prevention of such disorders in future offspring as well as counsel the affected patients and families on how to cope with existing conditions, ensuring no patient or family living with an LSD ever feels alone.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Pompe Warrior Foundation

The mission of the Pompe Warrior Foundation is to promote research, educate, and empower individuals and families affected by Pompe Disease and other Lysosomal Storage Diseases. We hope to highlight the importance of diet in treating these diseases. We will support research into new dietary treatments and utilize that research to educate individuals and the medical community.

association for glycogen storage disease

The Association for Glycogen Storage Disease (AGSD) is a patient advocacy organization dedicated to protecting and promoting the best interest of all persons affected by the glycogen storage disease. • AGSD is committed to the identification, treatment, and cure of glycogen storage disease through programs of education, advocacy, research, and patient services.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.