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    Last Updated: 10/30/2025

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    MediFind found 506 doctor with experience in PEPCK 1 Deficiency. Of these, 438 are Experienced, 56 are Advanced and 12 are Distinguished.

    Location
    LocationClose
    506 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
      Distinguished in PEPCK 1 Deficiency
      Chengdu, CN 

      Lin Tuo practices in Chengdu, China. Tuo is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency and Liver Cancer.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Distinguished in PEPCK 1 Deficiency
      Distinguished in PEPCK 1 Deficiency
      Key Laboratory Of Molecular Biology For Infectious Diseases, 
      Chongqing, CN 

      Ni Tang practices in Chongqing, China. Ms. Tang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are PEPCK 1 Deficiency, Liver Cancer, Hepatitis, and Hepatitis B.

      Learn about our expert tiers
      Distinguished in PEPCK 1 Deficiency
      Distinguished in PEPCK 1 Deficiency
      Xingang Xi Road 135, 
      Guangzhou, CN 

      Jin Xiang practices in Guangzhou, China. Xiang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency, Liver Cancer, Lung Cancer, Tissue Biopsy, and Thymectomy.

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

      Qingzhu Gao practices in Chongqing, China. Gao is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency, Liver Cancer, Chronic Graft Versus Host Disease (cGvHD), and Hepatitis.

      Distinguished in PEPCK 1 Deficiency
      Distinguished in PEPCK 1 Deficiency
      910 West 10th Avenue, Department Of Pathology Jppn Rm 1500 Vancouver General, 
      Vancouver, BC, CA 
      Languages Spoken:
      English

      Yi Liu practices in Vancouver, Canada. Dr. Liu is rated as a Distinguished provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Cervical Cancer, Lung Cancer, Cerebral Hypoxia, Endoscopy, and Gastrectomy.

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

      Ailong Huang practices in Chongqing, China. Huang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency, Hepatitis, Hepatitis B, and Liver Cancer.

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

      Paivi Vieira practices in Oulu, Finland. Vieira is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency, West Syndrome, Glucose Transporter Deficiency, and Lissencephaly.

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

      Jie Xia practices in Shanghai, China. Xia is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency, Gallstones, Liver Cancer, Hepato-Pancreato-Biliary Surgery, and Osteotomy.

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

      Li Liang practices in Chongqing, China. Liang is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency and Liver Cancer.

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

      Haijun Deng practices in Linjiang, China. Deng is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Their top areas of expertise are PEPCK 1 Deficiency, Hepatitis, Hepatitis B, and Liver Cancer.

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

      Jessie Cameron practices in Toronto, Canada. Ms. Cameron is rated as a Distinguished expert by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are PEPCK 1 Deficiency, MELAS Syndrome, Lactic Acidosis, and Arginase Deficiency.

      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.

      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.

      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.

      Showing 1-20 of 506

      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 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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