The 20 Best Pompe Disease Doctors Near Me in orange, CA

Find the Top Pompe Disease Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 27 doctor with experience in Pompe Disease near orange, CA. Of these, 22 are Experienced, 3 are Advanced and 2 are Elite.

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27 providers found
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Elite in Pompe Disease
    Medical Genetics | Pediatrics
    Referral may be required

    UC Irvine Medical Center

    101 The City Drive South, Building 30, 
    Orange, CA 
     (2.0 miles away)
    Languages Spoken:
    English, Greek, Hindi
    Offers Telehealth

    Virginia Kimonis is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Orange, California. Dr. Kimonis is rated as an Elite provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

    Elite in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Elite in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Referral may be required

    UCI Health ALS & Neuromuscular Center

    200 South Manchester Avenue, Suite 110, 
    Orange, CA 
     (2.2 miles away)
    Languages Spoken:
    English, Hindi, Urdu
    Accepting New Patients
    Offers Telehealth

    Tahseen Mozaffar is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Orange, California. Dr. Mozaffar is rated as an Elite provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy. Dr. Mozaffar is board certified in Board Certification In Neurology, 1996-2026, Board Certification In Neuromuscular Medicine, 2008-2028, and Board Certification In Clinical Neuromuscular Pathology, 2015 - 2025. Dr. Mozaffar is currently accepting new patients.

    Advanced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Advanced in Pompe Disease
    Neurology | Neuromusculoskeletal Medicine
    Referral may be required

    UCI Health ALS & Neuromuscular Center

    200 South Manchester Avenue, Suite 110, 
    Orange, CA 
     (2.2 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Namita Goyal is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Orange, California. Dr. Goyal is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Inclusion Body Myositis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myositis, and Primary Lateral Sclerosis. Dr. Goyal is board certified in CA State Medical License 2012 - 2024 and MA State Medical License 2006 - 2023.

    Learn about our expert tiers
    Advanced in Pompe Disease
    Medical Genetics
    Advanced in Pompe Disease
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). Dr. Wang is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology | Pediatrics
    Experienced in Pompe Disease
    Pediatric Cardiology | Pediatrics
    Referral may be required

    CHOC CS Cardiology

    1140 W La Veta Ave, Ste 750, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Nafiz Kiciman is a Pediatric Cardiologist and a Pediatrics provider practicing medicine in Orange, California. Dr. Kiciman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Patent Ductus Arteriosus, Ventricular Septal Defects, Mixed Gonadal Dysgenesis, and Turner Syndrome. Dr. Kiciman is board certified in Pediatrics (Sub: Pediatric Cardiology) and Pediatrics (Sub: Neonatal-Perinatal Medicine). Dr. Kiciman is currently accepting new patients.

    Advanced in Pompe Disease
    Medical Genetics
    Advanced in Pompe Disease
    Medical Genetics
    Referral may be required
    1201 W La Veta Ave, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Walla Al-Hertani is a Medical Genetics provider practicing medicine in Orange, California. Dr. Al-Hertani is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 62 other conditions, according to our data. Her clinical expertise encompasses Von Gierke Disease, Classic Galactosemia, Andersen Disease, and Glycogen Storage Disease Type 0. Dr. Al-Hertani is currently accepting new patients.

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

    UC Irvine Medical Center

    101 The City Drive South, 
    Orange, CA 
     (2.0 miles away)
    Languages Spoken:
    English

    John Weiss is a Neurologist practicing medicine in Orange, California. Dr. Weiss is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, Pompe Disease, and Frontotemporal Dementia. Dr. Weiss is board certified in American Board Of Psychiatry And Neurology - Neurology.

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

    UCI Health Chao Family Comprehensive Digestive Disease Center

    101 The City Drive South, Building 22C, 
    Orange, CA 
     (2.0 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Angela Myers is a Medical Genetics provider practicing medicine in Orange, California. Dr. Myers is rated as an Experienced provider 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 Bowen-Conradi Syndrome, Costello Syndrome, Microcephaly Deafness Syndrome, and RASopathies.

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

    UCI Health Cardiovascular Center

    101 The City Drive South, Building 25, 
    Orange, CA 
     (2.0 miles away)
    Languages Spoken:
    English, Polish
    Accepting New Patients
    Offers Telehealth

    Irmina Gradus-Pizlo is a Cardiologist practicing medicine in Orange, California. Dr. Gradus-Pizlo is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Heart Failure, Heart Failure with Preserved Ejection Fraction (HFpEF), Heart Attack, Heart Transplant, and Heart Bypass Surgery. Dr. Gradus-Pizlo is board certified in American Board Of Internal Medicine - Advanced Heart Failure And Transplant Cardiology and American Board Of Internal Medicine - Cardiovascular Disease. Dr. Gradus-Pizlo is currently accepting new patients.

    Experienced in Pompe Disease
    Experienced in Pompe Disease
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Cristel Chapel-Crespo is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chapel-Crespo is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses CLN2 Disease, CLN3 Disease, CLN1 Disease, and CLN4 Disease. Dr. Chapel-Crespo is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 156 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Maternal Hyperphenylalaninemia, and Adrenoleukodystrophy (ALD). Dr. Chang is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Anthony Mccanta is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Mccanta is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 73 other conditions, according to our data. His clinical expertise encompasses Congenital Heart Disease (CHD), Tetralogy of Fallot, Arrhythmias, Patent Ductus Arteriosus, and Cardiac Ablation. Dr. Mccanta is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Michael Recto is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Recto is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 54 other conditions, according to our data. His clinical expertise encompasses Patent Ductus Arteriosus, Ventricular Septal Defects, Pulmonary Atresia with Ventricular Septal Defect, and Situs Inversus. Dr. Recto is currently accepting new patients.

    Experienced in Pompe Disease
    Medical Genetics
    Experienced in Pompe Disease
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Jose Abdenur is a Medical Genetics provider practicing medicine in Orange, California. Dr. Abdenur is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 9, Glycogen Storage Disease Type 3, and Malonyl-CoA Decarboxylase Deficiency. Dr. Abdenur is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Jade Tran is a Pediatric Cardiologist practicing medicine in Orange, California. Dr. Tran is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Patent Ductus Arteriosus, Ventricular Septal Defects, Heart Murmurs, and Kawasaki Disease. Dr. Tran is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Pulmonology
    Experienced in Pompe Disease
    Pediatric Pulmonology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Katherine Lewinter is a Pediatric Pulmonologist practicing medicine in Orange, California. Dr. Lewinter is rated as an Experienced provider 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 Ciliary Dyskinesia-Bronchiectasis, Primary Ciliary Dyskinesia (PCD), Asthma, Acrofacial Dysostosis Nager Type, and Adenoidectomy. Dr. Lewinter is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Pulmonology
    Experienced in Pompe Disease
    Pediatric Pulmonology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Neal Nakra is a Pediatric Pulmonologist practicing medicine in Orange, California. Dr. Nakra is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Asthma, Congenital Unilateral Pulmonary Hypoplasia, Wolf-Hirschhorn Syndrome, and Hypochondroplasia. Dr. Nakra is currently accepting new patients.

    Experienced in Pompe Disease
    Pediatric Pulmonology
    Experienced in Pompe Disease
    Pediatric Pulmonology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Sunil Kamath is a Pediatric Pulmonologist practicing medicine in Orange, California. Dr. Kamath is rated as an Experienced provider 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 Hypochondrogenesis, Asthma, Congenital Unilateral Pulmonary Hypoplasia, and Koolen De Vries Syndrome. Dr. Kamath is currently accepting new patients.

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

    Choc Hematology

    1201 W La Veta Ave, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English

    David Buchbinder is a Pediatrics provider practicing medicine in Orange, California. Dr. Buchbinder is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Infantile Neutropenia, Venous Thromboembolism (VTE), Anemia, Immune Thrombocytopenic Purpura (ITP), and Bone Graft. Dr. Buchbinder is board certified in American Board Pediatrics.

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

    CHOC Children's Hospital

    1201 W La Veta Ave, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Regina Yu is a Pediatrics provider practicing medicine in Orange, California. Dr. Yu is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her clinical expertise encompasses Wildervanck Syndrome, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, and Koolen De Vries Syndrome. Dr. Yu is currently accepting new patients.

    Showing 1-20 of 27

    Last Updated: 09/26/2026

    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 near orange, CA?

    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 near orange, CA?

    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 does MediFind rank Pompe Disease doctors near orange, CA?

    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 near orange, CA?

    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 near orange, CA?

    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 near orange, CA?

    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 near orange, CA?

    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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