The 20 Best Pompe Disease Doctors in Australia

Find the Top Pompe Disease Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 40 doctor with experience in Pompe Disease near Australia. Of these, 37 are Experienced, 2 are Advanced and 1 are Elite.

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40 providers found
    Elite in Pompe Disease
    Elite in Pompe Disease
    Referral may be required
    72 King William Rd, 
    North Adelaide, SA, AU 

    Drago Bratkovic practices practicing medicine in North Adelaide, Australia. Mr. Bratkovic is rated as an Elite expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Mucopolysaccharidoses (MPS), and Adrenoleukodystrophy (ALD).

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Frome Road, 
    Adelaide, SA, AU 

    May Htut-Aung practices practicing medicine in Adelaide, Australia. Ms. Htut-Aung is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Limb-Girdle Muscular Dystrophy Type 2B, Stargardt Macular Degeneration, Pompe Disease, and Retinopathy Pigmentary Mental Retardation.

    Advanced in Pompe Disease
    Advanced in Pompe Disease
    Referral may be required
    Randwick, NSW, AU 

    Carolyn Ellaway practices practicing medicine in Randwick, Australia. Ms. Ellaway is rated as an Advanced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Rett Syndrome, Ornithine Transcarbamylase Deficiency, Smith-Lemli-Opitz Syndrome, Gastrostomy, and Spinal Fusion.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    North Terrace, 
    Adelaide, SA, AU 

    Tracy Merlin practices practicing medicine in Adelaide, Australia. Ms. Merlin is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Pompe Disease and Vertebroplasty.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    90 South St, 
    Murdoch, WA, AU 

    Merrilee Needham practices practicing medicine in Murdoch, Australia. Ms. Needham is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses Inclusion Body Myositis, Primary Lateral Sclerosis, Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Gastrostomy.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Perth, WA, AU 

    Kristin Ham practices practicing medicine in Perth, Australia. Ms. Ham is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Pompe Disease.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    North Terrace, 
    Adelaide, SA, AU 

    Maria Fuller practices practicing medicine in Adelaide, Australia. Ms. Fuller is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Lipogranulomatosis, and Gaucher Disease.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    4th Floor A Block, Verdun Street, 
    Nedlands, WA, AU 

    Steve Wilton practices practicing medicine in Nedlands, Australia. Mr. Wilton is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Dystrophinopathy, and Stargardt Macular Degeneration.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Hawkesbury Road, 
    Westmead, NSW, AU 

    Michel Tchan practices practicing medicine in Westmead, Australia. Mr. Tchan is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Phenylketonuria (PKU), Fabry Disease, and Deep Brain Stimulation.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    St. Vincent's Hospital

    Darlinghurst, NSW, AU 

    Paola Pierucci practices practicing medicine in Darlinghurst, Australia. Ms. Pierucci is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Obesity Hypoventilation Syndrome (OHS), Cramp-Fasciculation Syndrome, Primary Lateral Sclerosis, and Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease).

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Parkville, VIC, AU 

    Georgina Johnson practices practicing medicine in Parkville, Australia. Ms. Johnson is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Aspartylglucosaminuria, Pompe Disease, Tay-Sachs Disease, and Gangliosidosis.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    North Terrace, 
    Adelaide, SA, AU 

    John Hopwood practices practicing medicine in Adelaide, Australia. Mr. Hopwood is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), Mucopolysaccharidoses (MPS), and Multiple Sulfatase Deficiency.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Crawley, WA, AU 

    Russell Johnsen practices practicing medicine in Crawley, Australia. Mr. Johnsen is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. His clinical expertise encompasses Pompe Disease, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, and Limb-Girdle Muscular Dystrophy.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required

    St Vincent's Hospital Melbourne

    Fitzroy, VIC, AU 

    Katrina Reardon practices practicing medicine in Fitzroy, Australia. Ms. Reardon is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Pompe Disease.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Melbourne, VIC, AU 

    Andrew Kornberg practices practicing medicine in Melbourne, Australia. Mr. Kornberg is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Transverse Myelitis, and Optic Neuritis.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Sydney, NSW, AU 

    Kaustuv Bhattacharya practices practicing medicine in Sydney, Australia. Bhattacharya is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Rhabdomyolysis, Orotic Aciduria Type 1, Brachydactyly Mononen Type, and Liver Transplant.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    90 South St, 
    Murdoch, WA, AU 

    Sue Fletcher practices practicing medicine in Murdoch, Australia. Ms. Fletcher is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Primary Lateral Sclerosis, Retinopathy Pigmentary Mental Retardation, Retinitis Pigmentosa, and Stargardt Macular Degeneration.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    550 Swanston Street, 
    Carlton, VIC, AU 

    Adam Vogel practices practicing medicine in Carlton, Australia. Mr. Vogel is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Dysarthria, Hereditary Ataxia, Spinocerebellar Ataxia, and Drug Induced Dyskinesia.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    Melbourne, VIC, AU 

    Heidi Peters practices practicing medicine in Melbourne, Australia. Ms. Peters is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Riboflavin Transporter Deficiency Neuronopathy, Pyruvate Dehydrogenase Deficiency, and Leigh Syndrome.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    72 King William Road, 
    North Adelaide, SA, AU 

    Jennifer Saville practices practicing medicine in North Adelaide, Australia. Ms. Saville is rated as an Experienced expert by MediFind in the treatment of Pompe Disease. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), and Gaucher Disease.

    While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
    Showing 1-20 of 40

    Last Updated: 11/08/2026

    What is the definition of Pompe Disease?

    Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

    Which doctors treat Pompe disease?     

    Pompe disease is usually treated by a multidisciplinary team of specialists. This care team can include a neurologist, who treats nerve and muscle problems, and a geneticist, who understands conditions caused by changes in genes. Cardiologists may help if the heart is affected, while pulmonologists help if breathing is a concern. Physical therapists and dietitians may also be part of the care team to assist with muscle strength and nutrition. 

    How is Pompe disease diagnosed?     

    Pompe disease is a rare genetic disorder, so diagnosing it can sometimes take time. Doctors usually start with blood tests to check the level of an enzyme called acid alpha-glucosidase (GAA). People with Pompe disease have low levels of this enzyme. If the blood test shows a problem, genetic testing is often done to confirm the diagnosis by looking for changes in the GAA gene. Sometimes, doctors may also do a muscle biopsy, where a small sample of muscle is taken and checked for signs of the disease. Early diagnosis is important for starting treatment as soon as possible. 

    How is Pompe disease treated? 

    Pompe disease is treated with enzyme replacement therapy (ERT). This treatment gives the body more of the enzyme that is missing or not working well. ERT is delivered through an IV and helps slow down the muscle damage caused by Pompe disease. Other treatments depend on how the disease affects the body. Physical therapy can help keep muscles strong and improve movement. Some people may need breathing support, like using a ventilator, if their lungs are affected. In severe cases, especially in infants, heart care may also be needed. A dietitian might help with nutrition, especially if eating or swallowing becomes hard.  

    What is the life expectancy for someone with Pompe disease? 

    Life expectancy for someone with Pompe disease depends on the type and when it’s diagnosed. Infantile-onset Pompe disease, which appears in babies, can be very serious. Without treatment, babies may not survive beyond their first year. With ERT and early diagnosis, some babies can live much longer. In late-onset Pompe disease, which appears later in life, life expectancy varies but can be improved with treatment. While Pompe disease is lifelong, early treatment and regular care can help people manage their symptoms and improve their quality of life.   

    When should I see a Pompe Disease doctor in Australia?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Pompe Disease doctor in Australia?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How do I find the best Pompe Disease doctor in Australia?

    You can find a Pompe Disease doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Pompe Disease doctors in Australia?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Pompe Disease doctors in Australia?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Pompe Disease doctor in Australia?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Pompe Disease doctor search results page. 

    Why is it important to get a second opinion from a different Pompe Disease doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Pompe Disease doctor in Australia?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Pompe Disease doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Pompe Disease doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Pompe Disease doctors in Australia?

    Look for the filter feature on the left side of the Pompe Disease doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Pompe Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Pompe Disease doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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