Glycogen storage disease due to acid maltase deficiency
Synonyms: Alpha-1,4-glucosidase acid deficiency | GSD due to acid maltase deficiency | GSD type 2 | GSD type II | Glycogen storage disease type 2 | Glycogen storage disease type II | Glycogenosis due to acid maltase deficiency | Glycogenosis type 2 | Glycogenosis type II | Pompe disease
A rare lysosomal storage disease characterized by lysosomal accumulation of glycogen particularly in skeletal cardiac and respiratory muscles as well as the liver and nervous system due to acid maltase deficiency. The clinical spectrum comprises infantile-onset disease with severe hypertrophic cardiomyopathy generalized muscle weakness poor feeding and failure to thrive and respiratory insufficiency and late-onset disease manifesting before or after twelve months of age without cardiomyopathy with proximal muscle weakness and respiratory insufficiency.
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 http://www.orphadata.org. Data version April 2024
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Glycogen storage disease due to acid maltase deficiency?
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Advocacy Organizations
Canadian Association of Pompe
We are committed to helping Pompe patients and their families in Canada through education, support and community.
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.
Children’s Cardiomyopathy Foundation
CCF's mission is to accelerate the search for causes and cures for pediatric cardiomyopathy through increased research, education, awareness, advocacy, and support to affected children and their families.
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.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver 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.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Hypertrophic Cardiomyopathy Association
Providing support, advocacy, and education to patients, families, the medical community, and the public about hypertrophic cardiomyopathy, while supporting research and fostering the development of treatments.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Lysosomal Storage Disorders Society – Pakistan
Our mission is to improve the lives of Lysosomal Storage Disease patients in Pakistan by advocating for patients’ rights and creating awareness in general public.
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.
New Zealand Pompe Network
Our mission is to support people in New Zealand who have Pompe disease.
Pompe Alliance
To provide supportive services, education and information to patients, caregivers, medical professionals and community stakeholders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.