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    Last Updated: 10/30/2025

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    MediFind found 256 doctor with experience in PEPCK 1 Deficiency near The United States. Of these, 212 are Experienced, 43 are Advanced and 1 are Distinguished.

    Location
    LocationClose
    256 providers found
      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency
      2535 Hale St, Ste A, 
      Avon, OH 
      Languages Spoken:
      English
      Accepting New Patients

      Matthew Kacir is a Pediatrics provider in Avon, Ohio. Dr. Kacir is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Vitamin D Deficiency, Croup, Viral Gastroenteritis, and Pertussis. Dr. Kacir is currently accepting new patients.

      Distinguished in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      Distinguished in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology

      State Of Mississippi - University Of Mississippi Medical Center

      2500 N State St, 
      Jackson, MS 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Lamar Davis is a Pediatric Neurologist and a Pediatrics provider in Jackson, Mississippi. Dr. Davis is rated as a Distinguished provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. Dr. Davis is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      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.

      Learn about our expert tiers
      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.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      Pediatric Partners Of The Southwest

      810 E 3rd Street Suite 301, 
      Durango, CO 
      Languages Spoken:
      English

      Kelly Miller is a Pediatrics provider in Durango, Colorado. Dr. Miller is rated as an Experienced 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.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      Serenity Pediatrics

      71 E. Long Lake Rd, 
      Bloomfield Hills, MI 
      Languages Spoken:
      English
      Accepting New Patients

      Emily Casterline is a Pediatrics provider in Bloomfield Hills, Michigan. Dr. Casterline is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Obesity in Children, Croup, Herpangina, and Delayed Growth. Dr. Casterline is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      Serenity Pediatrics

      71 E. Long Lake Rd, 
      Bloomfield Hills, MI 
      Languages Spoken:
      English
      Accepting New Patients

      Jennifer Cohen is a Pediatrics provider in Bloomfield Hills, Michigan. Dr. Cohen is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Obesity in Children, Delayed Growth, Autism Spectrum Disorder, and PEPCK 1 Deficiency. Dr. Cohen is currently accepting new patients.

      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.

      Advanced in PEPCK 1 Deficiency
      Neurology | Pediatric Neurology
      Advanced in PEPCK 1 Deficiency
      Neurology | Pediatric Neurology
      1201 West La Veta Avenue, 
      Orange, CA 
      Languages Spoken:
      English
      Accepting New Patients

      Maija-riikka Steenari is a Neurologist and a Pediatric Neurologist in Orange, California. Dr. Steenari 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, Autosomal Recessive Congenital Methemoglobinemia, and Dihydrolipoamide Dehydrogenase Deficiency. Dr. Steenari is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Nurse Practitioner
      Advanced in PEPCK 1 Deficiency
      Nurse Practitioner

      Trustcare Health, LLC

      4880 I 55 Frontage Rd N, 
      Jackson, MS 
      Experience:
      9+ years
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Michelle Tharp is a Nurse Practitioner in Jackson, Mississippi. Ms. Tharp has been practicing medicine for over 9 years and 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. Ms. Tharp is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics

      University Of Minnesota Health Clinics And Surgery Center Inc

      909 Fulton St Se, 
      Minneapolis, MN 
      Languages Spoken:
      English
      Accepting New Patients

      Susan Berry is a Medical Genetics specialist and a Pediatrics provider in Minneapolis, Minnesota. Dr. Berry is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Propionic Acidemia, Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, and Alkaptonuria. Dr. Berry is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics | Pediatric Neurology
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics | Pediatric Neurology

      University Hospitals Medical Group Inc

      11100 Euclid Ave, 
      Cleveland, OH 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Suzanne Debrosse is a Medical Genetics specialist and a Pediatrics provider in Cleveland, Ohio. Dr. Debrosse is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Pyruvate Dehydrogenase Deficiency, Pyruvate Decarboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. Dr. Debrosse is currently accepting new patients.

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

      Brigham And Womens Physicians Organization Inc

      75 Francis St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Nathan Connell is a Hematologist and a Hematologist Oncology provider in Boston, Massachusetts. Dr. Connell is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Von Willebrand Disease (VWD), Thrombocytopenia, Sickle Cell Disease, and Blood Clots. Dr. Connell is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Medical Genetics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics
      1201 West La Veta Avenue, 
      Orange, CA 
      Languages Spoken:
      English
      Accepting New Patients

      Jose Abdenur is a Medical Genetics provider in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Adrenoleukodystrophy (ALD), Von Gierke Disease, Glycogen Storage Disease Type 3, and Hyperlysinemia. Dr. Abdenur is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Medical Genetics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics
      1201 West La Veta Avenue, 
      Orange, CA 
      Languages Spoken:
      English
      Accepting New Patients

      Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Adrenoleukodystrophy (ALD), and Citrullinemia. Dr. Chang is currently accepting new patients.

      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
      Medical Genetics | Pediatrics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics

      University Family Physicians, Inc.

      975 W Walnut St, 
      Indianapolis, IN 
      Languages Spoken:
      English
      Accepting New Patients

      Bryan Hainline is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Hainline is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Phenylketonuria (PKU), Pyruvate Carboxylase Deficiency, Urea Cycle Disorders (UCD), and Inborn Amino Acid Metabolism Disorder. Dr. Hainline is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Neonatology | Pediatrics
      Advanced in PEPCK 1 Deficiency
      Neonatology | Pediatrics
      13123 E 16th Ave, 
      Aurora, CO 
      Languages Spoken:
      English
      Accepting New Patients

      Paul Rozance is a Neonatologist and a Pediatrics provider in Aurora, Colorado. Dr. Rozance is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Placental Insufficiency, Intrauterine Growth Restriction, Newborn Low Blood Sugar, and Cerebral Hypoxia. Dr. Rozance is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Neurology | Neurosurgery
      Advanced in PEPCK 1 Deficiency
      Neurology | Neurosurgery

      St Joseph Hospital LLC

      307 Saint Johns Way, Suite 1, 
      Lewiston, ID 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jean Thomas is a Neurologist and a Neurosurgery provider in Lewiston, Idaho. Dr. Thomas is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Multiple Sclerosis (MS), Neurofibromatosis, Parkinson's Disease, and Movement Disorders. Dr. Thomas is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Family Medicine
      Advanced in PEPCK 1 Deficiency
      Family Medicine

      Southcentral Foundation

      1 Flight Line Rd, 
      Port Alsworth, AK 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Daniel Griffis is a primary care provider, practicing in Family Medicine in Port Alsworth, Alaska. Dr. Griffis is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. Dr. Griffis is currently accepting new patients.

      Showing 1-20 of 256

      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 The United States?

      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 The United States?

      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 The United States?

      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 The United States?

      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 The United States?

      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 The United States?

      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 The United States?

      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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