The 20 Best Pyruvate Dehydrogenase Deficiency Doctors Near Me in ann arbor, MI

Find the Top Pyruvate Dehydrogenase Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 3 doctor with experience in Pyruvate Dehydrogenase Deficiency near ann arbor, MI. Of these, 2 are Experienced and 1 are Advanced.

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3 providers found
    Advanced in Pyruvate Dehydrogenase Deficiency

    Dr. Shane C. Quinonez
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Dehydrogenase Deficiency

    Dr. Shane C. Quinonez
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Michigan Pediatric Genetics Clinic

    1540 East Hospital Drive, Floor 6, 
    Ann Arbor, MI 
     (0.8 miles away)
    734-764-0579
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients
    Offers Telehealth

    Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez is rated as an Advanced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. He is also highly rated in 130 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Maple Syrup Urine Disease. Dr. Quinonez is board certified in Pediatrics, American Board Of Pediatrics, Pediatrics - 2011, Clinical Biochemical Genetics, American Board Of Medical Genetics And Genomics, Medical Biochemical Genetics - 2015 , American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics - 2024 , and Clinical Genetics & Genomics. Dr. Quinonez is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency

    Dr. Ayesha Ahmad
    Medical Genetics | Pediatrics
    Experienced in Pyruvate Dehydrogenase Deficiency

    Dr. Ayesha Ahmad
    Medical Genetics | Pediatrics
    Referral may be required

    C. S. Mott Children's Hospital

    1540 E Hospital Dr, Floor 6 Reception C, 
    Ann Arbor, MI 
     (0.7 miles away)
    734-764-0579
    Languages Spoken:
    English, Urdu
    See accepted insurances
    Accepting New Patients

    Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Ahmad is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Pompe Disease, Danon Disease, Von Gierke Disease, and Tyrosinemia Type 3. Dr. Ahmad is board certified in Clinical Biochemical Genetics and Clinical Genetics & Genomics. Dr. Ahmad is currently accepting new patients.

    Experienced in Pyruvate Dehydrogenase Deficiency

    Dr. Christina M. Sloan-Heggen
    Medical Genetics | Pediatrics
    Experienced in Pyruvate Dehydrogenase Deficiency

    Dr. Christina M. Sloan-Heggen
    Medical Genetics | Pediatrics
    Referral may be required

    C. S. Mott Children's Hospital

    1540 E Hospital Dr, Floor 6 Reception C, 
    Ann Arbor, MI 
     (0.7 miles away)
    734-764-0579
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    Christina Sloan-Heggen is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Sloan-Heggen is rated as an Experienced provider by MediFind in the treatment of Pyruvate Dehydrogenase Deficiency. She is also highly rated in 115 other conditions, according to our data. Her clinical expertise encompasses Chromosome 6q Duplication, Chromosome 8p Deletion, Delayed Growth, and Fragile XE Syndrome. Dr. Sloan-Heggen is board certified in Medical Biochemical Genetics and Clinical Genetics & Genomics. Dr. Sloan-Heggen is currently accepting new patients.

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    Showing 1-3 of 3

    Last Updated: 09/26/2026

    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 near ann arbor, MI?

    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 near ann arbor, MI?

    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 Pyruvate Dehydrogenase Deficiency doctor near ann arbor, MI?

    You can find a Pyruvate Dehydrogenase Deficiency doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Pyruvate Dehydrogenase Deficiency doctors near ann arbor, MI?

    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 near ann arbor, MI?

    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 near ann arbor, MI?

    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 near ann arbor, MI?

    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 near ann arbor, MI?

    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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