The 20 Best PEPCK 1 Deficiency Doctors Near Me in Philadelphia, PA

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 09/19/2026

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MediFind found 16 doctor with experience in PEPCK 1 Deficiency near Philadelphia, PA. Of these, 10 are Experienced and 6 are Advanced.

Location
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16 providers found
    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

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

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics. Dr. Narumanchi is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner
    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner
    Referral may be required

    South Philadelphia Pediatrics

    1408 South Broad Street, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Elizabeth Bowman is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Bowman, NP is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner
    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner
    Referral may be required

    South Philadelphia Pediatrics

    1408 South Broad Street, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Nicole Sue is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Sue, NP is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

    Learn about our expert tiers
    Experienced in PEPCK 1 Deficiency
    Family Medicine
    Experienced in PEPCK 1 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 PEPCK 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Obesity, Hypertension, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism.

    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency
    Referral may be required

    Childrens Health Care Associates Inc

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

    Rebecca Ganetzky is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Dihydrolipoamide Dehydrogenase Deficiency, Kearns-Sayre Syndrome, Pyruvate Carboxylase Deficiency, and Splenectomy.

    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency
    Referral may be required

    Office

    3501 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Christina Gunhild-Bergqvist is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Gunhild-Bergqvist is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

    Advanced in PEPCK 1 Deficiency
    Obstetrics and Gynecology
    Advanced in PEPCK 1 Deficiency
    Obstetrics and Gynecology
    Referral may be required

    Butler Medical Providers

    129 Oneida Valley Rd, 
    Butler, PA 
    Languages Spoken:
    English

    Anie Perard is an Obstetrics and Gynecologist practicing medicine in Butler, Pennsylvania. Dr. Perard is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Carboxylase Deficiency.

    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency
    Referral may be required

    Allegheny Valley Hospital

    1301 Carlisle St, 
    Natrona Heights, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Alexander Barsouk is a Hematologist practicing medicine in Natrona Heights, Pennsylvania. Dr. Barsouk is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Gastroesophageal Junction Cancer, Multiple Myeloma, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Referral may be required

    Office

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

    Amy Goldstein is a Pediatric Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Goldstein is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Kearns-Sayre Syndrome, Leigh Syndrome, MELAS Syndrome, Maternally Inherited Leigh Syndrome, and Gastrostomy. Dr. Goldstein is board certified in American Board Of Psychiatry And Neurology - Psychiatry.

    Experienced in PEPCK 1 Deficiency
    Pediatric Orthopedics | Orthopedics
    Experienced in PEPCK 1 Deficiency
    Pediatric Orthopedics | Orthopedics
    Referral may be required

    Pediatric Orthopaedics In Lawrenceville

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

    Ozgur Dede is a Pediatric Orthopedics specialist and an Orthopedics provider practicing medicine in Pittsburgh, Pennsylvania. Dr. Dede is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Osteotomy, and Spinal Fusion. Dr. Dede is board certified in American Board Of Orthopaedic Surgery. Dr. Dede is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Referral may be required

    Child Neurology In Wexford

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

    Shelley Williams is a Pediatric Neurologist practicing medicine in Wexford, Pennsylvania. Dr. Williams is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her clinical expertise encompasses Early Infantile Epileptic Encephalopathy, Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, and Pyruvate Carboxylase Deficiency. Dr. Williams is board certified in American Board Of Psychiatry And Neurology , American Board Of Psychiatry And Neurology , and American Board Of Psychiatry And Neurology. Dr. Williams is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Geisinger Wyoming Valley

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

    Michel Hoessly is an Oncologist practicing medicine in Wilkes Barre, Pennsylvania. Dr. Hoessly is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Thrombocytopenia, Chronic Lymphocytic Leukemia (CLL), Hemangioma Thrombocytopenia Syndrome, and Pleuropulmonary Blastoma.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required
    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 practicing medicine in Philadelphia, Pennsylvania. Dr. Sondheimer is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Pyruvate Carboxylase Deficiency, Leigh Syndrome, PEPCK 1 Deficiency, and Homocystinuria.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Penn Neuroscience Center - Neurology

    3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    James Dowling is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Dowling is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Horizontal Gaze Palsy with Progressive Scoliosis. Dr. Dowling is board certified in Neurology - Child Neurology, 2007. Dr. Dowling is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Gastroenterology
    Experienced in PEPCK 1 Deficiency
    Gastroenterology
    Referral may be required

    Penn Gastroenterology Perelman

    3400 Civic Center Boulevard, South Pavilion, 4th Floor, 
    Philadelphia, PA 
    Experience:
    17+ years
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Ethan Weinberg is a Gastroenterologist practicing medicine in Philadelphia, Pennsylvania. He has been practicing medicine for over 17 years. Dr. Weinberg is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Hepatitis, Hepatorenal Syndrome, Liver Failure, Liver Transplant, and Ileostomy. Dr. Weinberg is board certified in Internal Medicine, 2013 and Gastroenterology, 2015. Dr. Weinberg is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Office

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

    Lawrence Fried is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Fried is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Epilepsy Juvenile Absence, Seizures, Absence Seizure, and Epilepsy.

    Showing 1-16 of 16

    Last Updated: 09/19/2026

    What is the definition of PEPCK 1 Deficiency?

    PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). In severe cases, symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by genetic changes in the PEPCK1 gene. PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).

    When should I see a PEPCK 1 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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different PEPCK 1 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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 Deficiency doctors near Philadelphia, PA?

    Look for the filter feature on the left side of the PEPCK 1 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 PEPCK 1 Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the PEPCK 1 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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