The 20 Best Pyruvate Dehydrogenase Deficiency Doctors Near Me in California, US

Find the Top Pyruvate Dehydrogenase Deficiency Experts and Specialists

The 20 Best Pyruvate Dehydrogenase Deficiency Doctors in California, US

Last Updated: 02/22/2026

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MediFind found 15 doctor with experience in Pyruvate Dehydrogenase Deficiency near California, US. Of these, 10 are Experienced and 5 are Advanced.

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15 providers found
    Raymond Y. Wang
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English

    Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Jose Abdenur is a Medical Genetics provider in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. His top areas of expertise are Von Gierke Disease, Glycogen Storage Disease Type 3, Hyperlysinemia, and Glutaric Acidemia Type 1. Dr. Abdenur is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Adrenoleukodystrophy (ALD), and Citrullinemia. Dr. Chang is currently accepting new patients.

    Learn about our expert tiers
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Cristel Chapel is a Medical Genetics provider in Orange, California. Dr. Chapel is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are CLN1 Disease, CLN5 Disease, CLN2 Disease, and CLN3 Disease. Dr. Chapel is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Palliative Medicine
    Experienced in Pyruvate Dehydrogenase Deficiency
    Palliative Medicine
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Sarah Keating is a primary care provider, practicing in Palliative Medicine in Orange, California. Dr. Keating is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are Acrodysostosis, Acrofacial Dysostosis Nager Type, Acrofacial Dysostosis Weyers Type, and Townes-Brocks Syndrome. Dr. Keating is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Changrui Xiao is a Medical Genetics provider in Orange, California. Dr. Xiao is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. His top areas of expertise are Glutaric Acidemia Type 2, Retinopathy Pigmentary Mental Retardation, Adrenoleukodystrophy (ALD), and X-Linked Creatine Deficiency. Dr. Xiao is currently accepting new patients.

    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Advanced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    3505 Broadway, 
    Oakland, CA 
    Languages Spoken:
    English

    Bryce Mendelsohn is a Medical Genetics provider in Oakland, California. Dr. Mendelsohn is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. His top areas of expertise are Chromosome 10q Deletion, Chromosome 13q Duplication, Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    33608 Ortega Hwy, 
    San Juan Capistrano, CA 
    Languages Spoken:
    English

    Charles Strom is a Pediatrics specialist and a Medical Genetics provider in San Juan Capistrano, California. Dr. Strom is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. His top areas of expertise are Mosaicism, Chromosome 13q Deletion, Wildervanck Syndrome, and Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics

    Sacramento Medical Center

    1650 Response Road, 
    Sacramento, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Kamer Tezcan is a Medical Genetics specialist and a Pediatrics provider in Sacramento, California. Dr. Tezcan is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are Chromosome 10q Deletion, Neurofibromatosis Type 1 (NF1), Chromosome 13q Duplication, and Neurofibromatosis. Dr. Tezcan is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    7920 Frost St Ste 200, 
    San Diego, CA 
    Languages Spoken:
    English

    Annette Feigenbaum is a Medical Genetics provider in San Diego, California. Dr. Feigenbaum is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Ornithine Transcarbamylase Deficiency, and Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Pediatrics | Medical Genetics
    1825 4th St Fl 6, 
    San Francisco, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Monica Penon-Portmann is a Pediatrics specialist and a Medical Genetics provider in San Francisco, California. Dr. Penon-Portmann is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are Glycogen Storage Disease Type 0, Andersen Disease, Glycogen Storage Disease Type 9, and Glycogen Storage Disease Type 13. Dr. Penon-Portmann is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics

    Lpch Medical Group Div Of Lucile

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Anne Niehaus is a Medical Genetics provider in Palo Alto, California. Dr. Niehaus is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are Microcephaly, Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, Filippi Syndrome, and Oculofaciocardiodental Syndrome.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics | Pediatrics

    University Of California San Francisco

    2330 Post St, 
    San Francisco, CA 
    Languages Spoken:
    English, Mandarin, Spanish
    Accepting New Patients
    Offers Telehealth

    Irene Chang is a Medical Genetics specialist and a Pediatrics provider in San Francisco, California. Dr. Chang is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are Biotinidase Deficiency, Fabry Disease, Megalencephalic Leukoencephalopathy with Subcortical Cysts, and Multiple Sulfatase Deficiency. Dr. Chang is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine
    Experienced in Pyruvate Dehydrogenase Deficiency
    Family Medicine

    Camino Health Center

    San Juan Capistrano, CA 
    Experience:
    32+ years
    Languages Spoken:
    English

    Firozeh Gruber is a primary care provider, practicing in Family Medicine in San Juan Capistrano, California. Dr. Gruber has been practicing medicine for over 32 years and is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. Her top areas of expertise are Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Dehydrogenase Deficiency, PEPCK 1 Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics
    Experienced in Pyruvate Dehydrogenase Deficiency
    Medical Genetics

    Kaiser Permanente Los Angeles Medical Center - Genetics Department

    4700 W Sunset Blvd, 
    Los Angeles, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Divya Vats is a Medical Genetics provider in Los Angeles, California. Dr. Vats is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. His top areas of expertise are Adrenoleukodystrophy (ALD), Classic Galactosemia, Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Vats is currently accepting new patients.

    Showing 1-15 of 15

    Last Updated: 02/22/2026

    What is the definition of Pyruvate Dehydrogenase Deficiency?

    Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.

    When should I see a Pyruvate Dehydrogenase Deficiency doctor in California, US?

    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 Pyruvate Dehydrogenase Deficiency doctor in California, US?

    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 Pyruvate Dehydrogenase Deficiency doctors in California, US?

    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 Pyruvate Dehydrogenase Deficiency doctors in California, US?

    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 Pyruvate Dehydrogenase Deficiency doctor in California, US?

    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 Pyruvate Dehydrogenase Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different Pyruvate Dehydrogenase Deficiency 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 Pyruvate Dehydrogenase Deficiency doctor in California, US?

    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 Pyruvate Dehydrogenase Deficiency 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 Pyruvate Dehydrogenase Deficiency 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 Pyruvate Dehydrogenase Deficiency doctors in California, US?

    Look for the filter feature on the left side of the Pyruvate Dehydrogenase Deficiency 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 Pyruvate Dehydrogenase Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the Pyruvate Dehydrogenase Deficiency 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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