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    Last Updated: 10/30/2025

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    MediFind found 8 doctor with experience in Pyruvate Carboxylase Deficiency near Philadelphia, PA. Of these, 3 are Advanced, 3 are Experienced and 2 are Distinguished.

    Location
    LocationClose
    8 providers found
      Advanced in Pyruvate Carboxylase Deficiency
      Nurse Practitioner
      Advanced in Pyruvate Carboxylase Deficiency
      Nurse Practitioner

      South Philadelphia Pediatrics

      1408 South Broad Street, 2nd Floor, 
      Philadelphia, PA 
       (1.4 miles away)
      Languages Spoken:
      English

      Elizabeth Bowman is a Nurse Practitioner in Philadelphia, Pennsylvania. Ms. Bowman is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Dihydrolipoamide Dehydrogenase Deficiency.

      Advanced in Pyruvate Carboxylase Deficiency
      Nurse Practitioner
      Advanced in Pyruvate Carboxylase Deficiency
      Nurse Practitioner

      South Philadelphia Pediatrics

      1408 South Broad Street, 2nd Floor, 
      Philadelphia, PA 
       (1.4 miles away)
      Languages Spoken:
      English

      Nicole Sue is a Nurse Practitioner in Philadelphia, Pennsylvania. Ms. Sue is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Distinguished in Pyruvate Carboxylase Deficiency
      Distinguished in Pyruvate Carboxylase Deficiency
      34th St. & Civic Center Blvd, The Children's Hospital Of Philadelphia, Room 9nw55, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Rebecca Ganetzky is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Leigh Syndrome, Kearns-Sayre Syndrome, Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Splenectomy.

      Learn about our expert tiers
      Distinguished in Pyruvate Carboxylase Deficiency
      Medical Genetics | Pediatrics
      Distinguished in Pyruvate Carboxylase Deficiency
      Medical Genetics | Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Metabolism, 
      Philadelphia, PA 
       (1.6 miles away)
      Languages Spoken:
      English

      Neal Sondheimer is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Sondheimer is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Homocystinuria, and Phenylketonuria (PKU).

      Advanced in Pyruvate Carboxylase Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      Advanced in Pyruvate Carboxylase Deficiency
      Pediatric Neurology | Pediatrics | Neurology

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English

      Christina Bergqvist is a Pediatric Neurologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Bergqvist is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Lennox-Gastaut Syndrome (LGS), Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

      Amy C. Goldstein
      Experienced in Pyruvate Carboxylase Deficiency
      Endocrinology
      Experienced in Pyruvate Carboxylase Deficiency
      Endocrinology

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
       (1.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Amy Goldstein is an Endocrinologist in Philadelphia, Pennsylvania. Dr. Goldstein is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Kearns-Sayre Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Mitochondrial Trifunctional Protein Deficiency, Hirsutism in Women, and Gastrostomy.

      Experienced in Pyruvate Carboxylase Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      Experienced in Pyruvate Carboxylase Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      3500 Civic Center Blvd, 
      Philadelphia, PA 
       (1.6 miles away)
      Languages Spoken:
      English

      Lawrence Fried is a Pediatric Neurologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Fried is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Epilepsy Juvenile Absence, Seizures, Absence Seizure, and Epilepsy.

      Experienced in Pyruvate Carboxylase Deficiency
      Family Medicine
      Experienced in Pyruvate Carboxylase Deficiency
      Family Medicine

      Prospect Health Access Network Inc

      3030 Garrett Rd, 
      Drexel Hill, PA 
       (6.7 miles away)
      Languages Spoken:
      English

      Erica Sturdivant is a primary care provider, practicing in Family Medicine in Drexel Hill, Pennsylvania. Dr. Sturdivant is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Obesity, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Familial Hypertension.

      Showing 1-8 of 8

      Last Updated: 10/30/2025

      What is the definition of Pyruvate Carboxylase Deficiency?

      Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.

      When should I see a Pyruvate Carboxylase Deficiency doctor near Philadelphia, PA?

      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 Carboxylase Deficiency doctor near Philadelphia, PA?

      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 Carboxylase Deficiency doctors near Philadelphia, PA?

      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 Carboxylase Deficiency doctors near Philadelphia, PA?

      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 Carboxylase Deficiency doctor near Philadelphia, PA?

      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 Carboxylase Deficiency doctor search results page. 

      Why is it important to get a second opinion from a different Pyruvate Carboxylase 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 Carboxylase Deficiency doctor near Philadelphia, PA?

      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 Carboxylase 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 Carboxylase 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 Carboxylase Deficiency doctors near Philadelphia, PA?

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

      Look for the filter feature on the left-side of the Pyruvate Carboxylase 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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