The 20 Best Pyruvate Carboxylase Deficiency Doctors Near Me in Pennsylvania, US

Find the Top Pyruvate Carboxylase Deficiency Experts and Specialists

The 20 Best Pyruvate Carboxylase Deficiency Doctors in Pennsylvania, US

Last Updated: 02/22/2026

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MediFind found 16 doctor with experience in Pyruvate Carboxylase Deficiency near Pennsylvania, US. Of these, 8 are Experienced, 6 are Advanced and 2 are Distinguished.

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16 providers found
    Experienced in Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase Deficiency

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    Distinguished in Pyruvate Carboxylase Deficiency
    Distinguished in Pyruvate Carboxylase Deficiency

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    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.

    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 
    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).

    Learn about our expert tiers
    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 
    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, Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

    Shelley Williams
    Experienced in Pyruvate Carboxylase Deficiency
    Pediatric Neurology
    Experienced in Pyruvate Carboxylase Deficiency
    Pediatric Neurology

    Child Neurology In Wexford

    11279 Perry Highway, Suite 202, 
    Wexford, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Shelley Williams, MD, returned in 2007 to the Division of Child Neurology at UPMC Children's Hospital of Pittsburgh after two years at SUNY Upstate Medical University, Syracuse, N.Y. Dr. Williams completed fellowships in child neurology and pediatric epilepsy, as well as her pediatrics residency, at UPMC Children's Hospital. Her medical degree is from Bowman Gray School of Medicine, Wake Forest University, Winston-Salem, N.C. In addition, she has specialty certifications in clinical neurophysiology and child neurology and epilepsy.  She directs the pediatric clinical neurophysiology fellow ship program and serves as director of the ketogenic diet and tuberous sclerosis specialty clinics. Dr. Williams is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Early Infantile Epileptic Encephalopathy, Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

    Ozgur Dede
    Experienced in Pyruvate Carboxylase Deficiency
    Pediatric Orthopedics | Orthopedics
    Experienced in Pyruvate Carboxylase Deficiency
    Pediatric Orthopedics | Orthopedics

    Pediatric Orthopaedics In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English, Turkish
    Accepting New Patients

    Ozgur Dede, MD, is a double fellowship trained, board-certified pediatric orthopaedic and spine surgeon at UPMC Children’s Hospital of Pittsburgh.Dr. Dede earned his medical degree from Hacettepe University in Ankara, Turkey where he also completed his orthopaedic surgery residency training. He pursued subspecialty training in pediatric orthopaedic surgery and spine surgery in the United States and completed 4 years of surgical fellowship training at Cincinnati Children's Hospital Medical Center, the University of Pittsburgh School of Medicine, Alfred I duPont Hospital for Children, and the UCSF Spine Center.His clinical interests include treatment of spinal problems in children including scoliosis, spondylolysis, spondylolisthesis, cervical instability, disc herniation and spinal stenosis. He also treats neuromuscular conditions including cerebral palsy and spina bifida, arthrogryposis and other syndromic afflictions.  His research interests include the non-operative and operative management of all types of pediatric scoliosis as well as management of hip and lower extremity deformities in children with spasticity.View Dr. Dede’s full list of publications from PubMed. Dr. Dede is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Scoliosis, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, Osteotomy, and Spinal Fusion.

    Advanced in Pyruvate Carboxylase Deficiency
    Advanced in Pyruvate Carboxylase Deficiency

    Office

    3401 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Christina Gunhild is a Neurologist in Philadelphia, Pennsylvania. Dr. Gunhild 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), Dihydrolipoamide Dehydrogenase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase 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 
    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 Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

    Advanced in Pyruvate Carboxylase Deficiency
    Advanced in Pyruvate Carboxylase Deficiency

    West Penn Allegheny Oncology Network

    4815 Liberty Ave Ste 340, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Alexander Barsouk is a Hematologist in Pittsburgh, Pennsylvania. Dr. Barsouk is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Childhood Iron Deficiency Anemia, Familial Colorectal Cancer, Gastroesophageal Junction Cancer, and Colorectal Cancer.

    Advanced in Pyruvate Carboxylase Deficiency
    Obstetrics and Gynecology
    Advanced in Pyruvate Carboxylase Deficiency
    Obstetrics and Gynecology

    Office

    330 N Point Dr Ste 300, 
    Clarion, PA 
    Languages Spoken:
    English

    Anie Perard is an Obstetrics and Gynecologist in Clarion, Pennsylvania. Dr. Perard is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Dihydrolipoamide Dehydrogenase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Carboxylase Deficiency, and PEPCK 1 Deficiency.

    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics

    University Of Pittsburgh Physicians

    4401 Penn Ave, Suite 3, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Jirair Bedoyan is a Medical Genetics specialist and a Pediatrics provider in Pittsburgh, Pennsylvania. Dr. Bedoyan is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Urea Cycle Disorders (UCD), and Gastrostomy. Dr. Bedoyan is currently accepting new patients.

    Amy Goldstein
    Experienced in Pyruvate Carboxylase Deficiency
    Pediatric Neurology
    Experienced in Pyruvate Carboxylase Deficiency
    Pediatric Neurology

    Office

    100 E Penn Sq Fl 9, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Amy Goldstein is a Pediatric Neurologist 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
    Experienced in Pyruvate Carboxylase Deficiency

    Geisinger Wyoming Valley

    1000 E Mountain Dr, 
    Wilkes Barre, PA 
    Languages Spoken:
    English

    Michel Hoessly is an Oncologist in Wilkes Barre, Pennsylvania. Dr. Hoessly is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Autoimmune Hemolytic Anemia, Thrombocytopenia, Chronic Lymphocytic Leukemia (CLL), and Hemangioma Thrombocytopenia Syndrome.

    Experienced in Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase Deficiency

    Office

    3500 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Lawrence Fried is a Neurologist 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

    Primary Care Drexel Hill

    3030 Garrett Rd, 
    Drexel Hill, PA 
    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, Hypertension, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension.

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

    University Of Pittsburgh Physicians

    4401 Penn Ave, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Uta Lichter-Konecki is a Pediatrics specialist and a Medical Genetics provider in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.

    Showing 1-16 of 16

    Last Updated: 02/22/2026

    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 in Pennsylvania, 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 Carboxylase Deficiency doctor in Pennsylvania, 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 Carboxylase Deficiency doctors in Pennsylvania, 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 Carboxylase Deficiency doctors in Pennsylvania, 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 Carboxylase Deficiency doctor in Pennsylvania, 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 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 in Pennsylvania, 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 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 in Pennsylvania, US?

    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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