The 20 Best PEPCK 1 Deficiency Doctors in The United States

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 254 doctor with experience in PEPCK 1 Deficiency near The United States. Of these, 208 are Experienced, 45 are Advanced and 1 are Distinguished.

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254 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), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics. Dr. Narumanchi is currently accepting new patients.

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

    Westshore Primary Care Assoc Inc

    2535 Hale St Ste A, 
    Avon, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Matthew Kacir is a Pediatrics provider practicing medicine in Avon, Ohio. Dr. Kacir is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Vitamin D Deficiency, Croup, Viral Gastroenteritis, and Pertussis. Dr. Kacir is currently accepting new patients.

    Distinguished in PEPCK 1 Deficiency
    Neuromusculoskeletal Medicine
    Distinguished in PEPCK 1 Deficiency
    Neuromusculoskeletal Medicine
    Referral may be required

    University Pathology Associates PLLC

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

    Lamar Davis-Ii is a Neuromusculoskeletal Medicine provider practicing medicine in Jackson, Mississippi. Dr. Davis-Ii is rated as a Distinguished provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency. Dr. Davis-Ii is currently accepting new patients.

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

    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, Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and PEPCK 1 Deficiency.

    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    M Health Fairview Metabolic Disorders Clinic Minneapolis

    909 Fulton Street Southeast, Floor 3, 
    Minneapolis, MN 
    Languages Spoken:
    English
    Accepting New Patients

    Susan Berry is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Berry is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 23 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Propionic Acidemia, Inborn Amino Acid Metabolism Disorder, and Argininosuccinic Aciduria. Dr. Berry is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Pediatrics: American Board Of Pediatrics, 1983. Dr. Berry is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Pediatric Neurology | Pediatrics
    Advanced in PEPCK 1 Deficiency
    Pediatric Neurology | Pediatrics
    Referral may be required

    U Of M Neurology

    1500 E Medical Center Dr, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Steven Leber is a Pediatric Neurologist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Leber is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Myoclonic Epilepsy, Seizures, Partial Seizure, and Dihydrolipoamide Dehydrogenase Deficiency. Dr. Leber is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Advanced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Michigan Pediatric Genetics Clinic

    1540 East Hospital Drive, Floor 6, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 130 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Propionic Acidemia. Dr. Quinonez is board certified in Pediatrics, American Board Of Pediatrics, Pediatrics - 2011, Clinical Biochemical Genetics, American Board Of Medical Genetics And Genomics, Medical Biochemical Genetics - 2015 , American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics - 2024 , and Clinical Genetics & Genomics. Dr. Quinonez is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Hematology | Otolaryngology
    Advanced in PEPCK 1 Deficiency
    Hematology | Otolaryngology
    Referral may be required

    AHN Cancer Institute-Med Onc & Infusions At Allegheny Valley Hospital

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

    Alexander Barsouk is a Hematologist and an Otolaryngologist 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, Dihydrolipoamide Dehydrogenase Deficiency, and PEPCK 1 Deficiency. Dr. Barsouk is board certified in American Board Of Internal Medicine - Hematology and Medical Oncology, American Board Of Internal Medicine.

    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics. Dr. Priestley is currently accepting new patients.

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

    Pediatric Partners Of The Southwest

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

    Kelly Miller is a Pediatrics provider practicing medicine in Durango, Colorado. Dr. Miller is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her clinical expertise encompasses Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency. Dr. Miller is board certified in Pediatric-American Board Of Pediatrics (ABP). Dr. Miller is currently accepting new patients.

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

    Serenity Pediatrics

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

    Emily Casterline is a Pediatrics provider practicing medicine in Bloomfield Hills, Michigan. Dr. Casterline is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Obesity in Children, Croup, Herpangina, and Delayed Growth. Dr. Casterline is board certified in American Osteopathic Board Of Pediatrics. Dr. Casterline is currently accepting new patients.

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

    Serenity Pediatrics

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

    Jennifer Cohen is a Pediatrics provider practicing medicine in Bloomfield Hills, Michigan. Dr. Cohen is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Obesity in Children, Delayed Growth, Autism Spectrum Disorder, and Dihydrolipoamide Dehydrogenase Deficiency. Dr. Cohen is board certified in American Board Of Pediatrics. Dr. Cohen is currently accepting new patients.

    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 9 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
    Neurology | Pediatric Neurology
    Advanced in PEPCK 1 Deficiency
    Neurology | Pediatric Neurology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Maija-riikka Steenari is a Neurologist and a Pediatric Neurologist practicing medicine in Orange, California. Dr. Steenari is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 158 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. Dr. Steenari is currently accepting new patients.

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

    Office

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

    Michelle Tharp is a Nurse Practitioner practicing medicine in Jackson, Mississippi. She has been practicing medicine for over 10 years. Tharp, 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 Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. Tharp, NP 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
    Referral may be required

    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 practicing medicine in Cleveland, Ohio. Dr. Debrosse is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 89 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. Dr. Debrosse is currently accepting new patients.

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

    Dana-Farber Cancer Institute

    450 Brookline Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Nathan Connell is a Hematologist practicing medicine in Boston, Massachusetts. Dr. Connell is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 40 other conditions, according to our data. His clinical expertise encompasses Von Willebrand Disease (VWD), Thrombocytopenia, Blood Clots, and Sickle Cell Disease. Dr. Connell is currently accepting new patients.

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

    Jose Abdenur is a Medical Genetics provider practicing medicine in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Pyruvate Decarboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, and Glycogen Storage Disease Type 9. Dr. Abdenur is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Medical Genetics
    Advanced in PEPCK 1 Deficiency
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 156 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Maternal Hyperphenylalaninemia, and Adrenoleukodystrophy (ALD). Dr. Chang is currently accepting new patients.

    Showing 1-20 of 254

    Last Updated: 11/08/2026

    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 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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