Pompe disease is a genetic, lysosomal glycogen storage disease due to genetic changes (variants) in the GAA gene. These genetic variants result in a lack of enzymes called acid alpha-glucosidase, which break down glycogen (storage form of glucose) into glucose. This leads to build up of glycogen in various tissues (particularly skeletal, cardiac and smooth muscles), causing organs damage and muscle weakness.

The symptoms and severity of Pompe disease vary widely between individuals. It can be categorised into two forms depending on the age of onset and symptoms:

• Infantile-onset Pompe disease (ORPHA:308552)
• Late-onset Pompe disease (ORPHA:420429)

Synonyms: Alpha-1,4-glucosidase acid deficiency; GSD due to acid maltase deficiency; glycogen storage disease type II; glycogen storage disease due to acid maltase deficiency; glycogenosis due to acid maltase deficiency; glycogenosis type II.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:365 Glycogen storage disease due to acid maltase deficiency

ICD-11: 5C51.3 Glycogen storage disease

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Pompe disease is a genetic condition. It is caused by disease-causing genetic changes (variants) in the GAA gene located on Chromosome 17. These genetic variants include single base changes (sequence variants/ a single letter changes in the genetic code), deletions, insertions. For more information on different types of genetic variants, please refer to Centre for Genetics Education: Types of genetic variation.

All individuals have two copies (alleles) of the GAA gene – one on each chromosome that is inherited from each parent. Pompe disease is an autosomal recessive condition, which means both copies of the GAA gene must have the disease-causing genetic variants. More information on autosomal recessive inheritance pattern can be found at Centre for Genetics Education: Autosomal recessive inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

There are currently two approved treatments that are subsidised by the Life Saving Drugs Program (LSDP) for eligible patients with a confirmed diagnosis of infantile-onset or late-onset Pompe disease. More information about suitability and eligibility requirements for these treatments can be found at Australian Government Department of Health, Disability and Ageing: Pompe disease.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of Pompe disease may include general practitioners (GP), cardiologists, dietitians, metabolic disease specialists, neurologists, orthopaedists, physiotherapists, pulmonologists, speech therapists and others. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines for Pompe disease in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) – developed by the European Reference Network for Metabolic Diseases (which included clinicians and patient support group representatives from 7 different countries); published in 2024.
• Pompe disease diagnosis and management guideline – developed by a group of Pompe disease’s experts in United States of America; published in 2006.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

Orphan Anaesthesia has Anaesthetic recommendations for Pompe disease; published in 2018.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

Australian Pompe Association
Website: https://australianpompe.org.au/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Pompe disease varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Pompe disease can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Glycogen storage disease ii
• National Organization for Rare Disorders (NORD): Pompe Disease

GeneReviews®: Pompe Disease

Online Mendelian Inheritance in Man, OMIM®: #232300 Pompe disease

Orphanet: Glycogen storage disease due to acid maltase deficiency

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.