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    Last Updated: 10/30/2025

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

    Location
    LocationClose
    16 providers found
      Advanced in PEPCK 1 Deficiency
      Nurse Practitioner
      Advanced in PEPCK 1 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 PEPCK 1 Deficiency. Her top areas of expertise are Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Dihydrolipoamide Dehydrogenase Deficiency.

      Advanced in PEPCK 1 Deficiency
      Nurse Practitioner
      Advanced in PEPCK 1 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 PEPCK 1 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?
      Advanced in PEPCK 1 Deficiency
      Advanced in PEPCK 1 Deficiency
      34th St. & Civic Center Blvd, The Children's Hospital Of Philadelphia, Room 9nw55, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Rebecca Ganetzky is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 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
      Advanced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      Advanced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      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 PEPCK 1 Deficiency. Her top areas of expertise are Lennox-Gastaut Syndrome (LGS), Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

      Advanced in PEPCK 1 Deficiency
      Obstetrics and Gynecology
      Advanced in PEPCK 1 Deficiency
      Obstetrics and Gynecology

      Punxsutawney Area Hospital Inc

      81 Hillcrest Dr, Suite 1200, 
      Punxsutawney, PA 
      Languages Spoken:
      English

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

      Advanced in PEPCK 1 Deficiency
      Hematology Oncology | Hematology | Oncology
      Advanced in PEPCK 1 Deficiency
      Hematology Oncology | Hematology | Oncology

      Butler Medical Providers

      150 Doctors Ln, Suite 1, 
      Clarion, PA 
      Languages Spoken:
      English

      Alexander Barsouk is a Hematologist Oncology specialist and a Hematologist in Clarion, Pennsylvania. Dr. Barsouk is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Childhood Iron Deficiency Anemia, Familial Colorectal Cancer, Gastroesophageal Junction Cancer, and Colorectal Cancer.

      Amy C. Goldstein
      Experienced in PEPCK 1 Deficiency
      Endocrinology
      Experienced in PEPCK 1 Deficiency
      Endocrinology

      Childrens Health Care Associates Inc

      3401 Civic Ctr Blvd, 
      Philadelphia, PA 
      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 PEPCK 1 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.

      Ozgur Dede
      Experienced in PEPCK 1 Deficiency
      Pediatric Orthopedics | Orthopedics
      Experienced in PEPCK 1 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 PEPCK 1 Deficiency. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Osteotomy, and Spinal Fusion.

      Shelley Williams
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology
      Experienced in PEPCK 1 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 PEPCK 1 Deficiency. Her top areas of expertise are Early Infantile Epileptic Encephalopathy, Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

      Experienced in PEPCK 1 Deficiency
      Hematology Oncology | Hematology | Oncology
      Experienced in PEPCK 1 Deficiency
      Hematology Oncology | Hematology | Oncology

      Geisinger Clinic

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

      Michel Hoessly is a Hematologist Oncology specialist and a Hematologist in Wilkes Barre, Pennsylvania. Dr. Hoessly is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Autoimmune Hemolytic Anemia, Thrombocytopenia, Pleuropulmonary Blastoma, and Lung Cancer.

      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Experienced in PEPCK 1 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 an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Homocystinuria, and Phenylketonuria (PKU).

      Experienced in PEPCK 1 Deficiency
      Internal Medicine
      Experienced in PEPCK 1 Deficiency
      Internal Medicine
      3401 N Broad St, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Wei Zhao is a primary care provider, practicing in Internal Medicine in Philadelphia, Pennsylvania. Dr. Zhao is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Microsporidiosis, Lung Cancer, Lung Adenocarcinoma, Endoscopy, and Coronary Artery Bypass Graft (CABG).

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      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 in Philadelphia, Pennsylvania. Dr. Dowling is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Horizontal Gaze Palsy with Progressive Scoliosis. Dr. Dowling is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Gastroenterology
      Experienced in PEPCK 1 Deficiency
      Gastroenterology

      Penn Gastroenterology Radnor

      145 King Of Prussia Road, Floor 2, Suite 205 South, 
      Radnor, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Ethan Weinberg is a Gastroenterologist in Radnor, Pennsylvania. Dr. Weinberg is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Hepatitis, Hepatorenal Syndrome, Liver Failure, Liver Transplant, and Ileostomy. Dr. Weinberg is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Family Medicine
      Experienced in PEPCK 1 Deficiency
      Family Medicine

      Prospect Health Access Network Inc

      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. Her top areas of expertise are Obesity, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Familial Hypertension.

      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      3500 Civic Center Blvd, 
      Philadelphia, PA 
      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 PEPCK 1 Deficiency. His top areas of expertise are Epilepsy Juvenile Absence, Seizures, Absence Seizure, and Epilepsy.

      Showing 1-16 of 16

      Last Updated: 10/30/2025

      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 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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 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 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 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 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 in Pennsylvania, US?

      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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