The 20 Best PEPCK 1 Deficiency Doctors Near Me

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 528 doctor with experience in PEPCK 1 Deficiency. Of these, 431 are Experienced, 83 are Advanced and 14 are Distinguished.

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528 providers found
    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics

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

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Experience:
    8+ years
    Languages Spoken:
    English
    Offers Telehealth

    Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. 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, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 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 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.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Chengdu, CN 

    Lin Tuo practices practicing medicine in Chengdu, China. Tuo is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency and Liver Cancer.

    Learn about our expert tiers
    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Key Laboratory Of Biorheological Science And Technology, 
    Chongqing, CN 

    Rui Liu practices practicing medicine in Chongqing, China. Mr. Liu is rated as a Distinguished expert 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 PEPCK 1 Deficiency, Liver Cancer, Hepatitis, and Cerebral Hypoxia.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Yantai, CN 

    Ni Tang practices practicing medicine in Yantai, China. Ms. Tang is rated as a Distinguished expert 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, Liver Cancer, Hepatitis, and Hepatitis B.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Xingang Xi Road 135, 
    Guangzhou, CN 

    Jin Xiang practices practicing medicine in Guangzhou, China. Xiang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency, Rhabdomyolysis, Liver Cancer, Tissue Biopsy, and Thymectomy.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Key Laboratory Of Molecular Biology For Infectious Diseases, 
    Chongqing, CN 

    Ailong Huang practices practicing medicine in Chongqing, China. Huang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency, Hepatitis, Hepatitis B, and Liver Cancer.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Chongqing, CN 

    Chang Chen practices practicing medicine in Chongqing, China. Mr. Chen is rated as a Distinguished expert 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 PEPCK 1 Deficiency, Liver Cancer, Necrotizing Vasculitis, and Periodontitis.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    No. 74, Linjiang Road, 
    Linjiang, CN 

    Haijun Deng practices practicing medicine in Linjiang, China. Deng is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency, Hepatitis B, Hepatitis, and Liver Cancer.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Chongqing, CN 

    Qingzhu Gao practices practicing medicine in Chongqing, China. Gao is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency, Liver Cancer, and Chronic Graft Versus Host Disease (cGvHD).

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Oulu, FI 

    Paivi Vieira practices practicing medicine in Oulu, Finland. Vieira is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency, Glucose Transporter Deficiency, West Syndrome, and Lissencephaly.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Key Laboratory Of Molecular Biology For Infectious Diseases, 
    Chongqing, CN 

    Luyi Huang practices practicing medicine in Chongqing, China. Huang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency, Liver Cancer, and Hepatitis.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    No. 600 Yi Shan Rd, 
    Shanghai, CN 

    Jie Xia practices practicing medicine in Shanghai, China. Xia is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 5 other conditions, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency, Gallstones, Liver Cancer, Hepato-Pancreato-Biliary Surgery, and Osteotomy.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Key Laboratory Of Molecular Biology For Infectious Diseases, 
    Chongqing, CN 

    Li Liang practices practicing medicine in Chongqing, China. Liang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. They are also highly rated in 1 other condition, according to our data. Their clinical expertise encompasses PEPCK 1 Deficiency and Liver Cancer.

    Distinguished in PEPCK 1 Deficiency
    Distinguished in PEPCK 1 Deficiency
    Toronto, ON, CA 

    Jessie Cameron practices practicing medicine in Toronto, Canada. Ms. Cameron is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses PEPCK 1 Deficiency, MELAS Syndrome, Lactic Acidosis, and Arginase Deficiency.

    Distinguished in PEPCK 1 Deficiency
    Neuromusculoskeletal Medicine
    Distinguished in PEPCK 1 Deficiency
    Neuromusculoskeletal Medicine

    University Pathology Associates PLLC

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

    Lamar Davis is a Neuromusculoskeletal Medicine provider practicing medicine in Jackson, Mississippi. Dr. Davis 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 Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

    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 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 24 other conditions, according to our data. Her clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency. Dr. Steenari 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 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 41 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 3, Malonyl-CoA Decarboxylase Deficiency, 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 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), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

    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 practicing medicine in Philadelphia, Pennsylvania. Ms. Bowman 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.

    Showing 1-20 of 528

    Last Updated: 04/28/2026

    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 me?

    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 me?

    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 me?

    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 me?

    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 me?

    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 me?

    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 me?

    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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