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    Last Updated: 10/30/2025

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    MediFind found 8 doctor with experience in PEPCK 1 Deficiency near Washington, US. Of these, 7 are Experienced and 1 are Advanced.

    Location
    LocationClose
    8 providers found
      Advanced in PEPCK 1 Deficiency
      Pediatrics | Oncology | Medical Genetics
      Advanced in PEPCK 1 Deficiency
      Pediatrics | Oncology | Medical Genetics
      4800 Sand Point Way Ne, 
      Seattle, WA 
      Languages Spoken:
      English, Polish, Spanish

      Peter Leahy is a Pediatrics specialist and an Oncologist in Seattle, Washington. Dr. Leahy is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Maple Syrup Urine Disease, Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and Beta-Ketothiolase Deficiency.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency
      Harborview Medical Center, 325 9th Ave, 
      Seattle, WA 
      Languages Spoken:
      English, Dutch, Farsi, Spanish, Tamil
      Accepting New Patients
      Offers Telehealth

      Michael Schwartz is an Endocrinologist in Seattle, Washington. Dr. Schwartz is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Obesity, Type 2 Diabetes (T2D), Low Blood Sugar, and PEPCK 1 Deficiency. Dr. Schwartz is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency
      1959 Ne Pacific St, University Of Washington, 
      Seattle, WA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients
      Offers Telehealth

      Andrew Cheng is a Cardiologist in Seattle, Washington. Dr. Cheng is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Marfan Syndrome, PEPCK 1 Deficiency, Hypoplastic Left Heart Syndrome (HLHS), and Bicuspid Aortic Valve. Dr. Cheng is currently accepting new patients.

      Learn about our expert tiers
      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      The Association Of University Physicians

      1959 Ne Pacific St, 
      Seattle, WA 
      Languages Spoken:
      English, Castilian, Fijian, Hindi, Korean, Spanish, Vietnamese
      Accepting New Patients
      Offers Telehealth

      Francis Kim is a Cardiologist in Seattle, Washington. Dr. Kim is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Ventricular Fibrillation, Non-Muscle Invasive Bladder Cancer, Muscle Invasive Bladder Cancer, and Cardiac Arrest. Dr. Kim is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Advanced Heart Failure and Transplant Cardiology | Cardiology
      Experienced in PEPCK 1 Deficiency
      Advanced Heart Failure and Transplant Cardiology | Cardiology

      The Association Of University Physicians

      1959 Ne Pacific St, 
      Seattle, WA 
      Languages Spoken:
      English, Castilian, Spanish
      Accepting New Patients
      Offers Telehealth

      Kevin O'brien is an Advanced Heart Failure and Transplant Cardiologist and a Cardiologist in Seattle, Washington. Dr. O'brien is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Cardiogenic Shock, Atherosclerosis, Heart Failure, Heart Transplant, and Heart Valve Repair. Dr. O'brien is currently accepting new patients.

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

      The Association Of Chrmc And University Physicians

      4800 Sand Point Way Ne, 
      Seattle, WA 
      Languages Spoken:
      English, Vietnamese
      Accepting New Patients
      Offers Telehealth

      Terry Kho is a Medical Genetics specialist and a Pediatrics provider in Seattle, Washington. Dr. Kho is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are CLN4 Disease, CLN1 Disease, CLN5 Disease, and CLN3 Disease. Dr. Kho is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Pediatric Orthopedics
      Experienced in PEPCK 1 Deficiency
      Pediatric Orthopedics
      911 West 5th Avenue, 
      Spokane, WA 
      Languages Spoken:
      English
      Accepting New Patients

      Jeremy Bauer is a Pediatric Orthopedics provider in Spokane, Washington. Dr. Bauer is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Clubfoot, Congenital Femoral Deficiency, Stuve-Wiedemann Syndrome, Rhizotomy, and Osteotomy. Dr. Bauer is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      The Association Of University Physicians

      825 Eastlake Ave E, 
      Seattle, WA 
      Languages Spoken:
      English, French, Portuguese
      Accepting New Patients
      Offers Telehealth

      Kleber Yotsumoto-Fertrin is a Hematologist in Seattle, Washington. Dr. Yotsumoto-Fertrin is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Sickle Cell Disease, Aplastic Anemia, Hemosiderosis, and Idiopathic Pulmonary Hemosiderosis. Dr. Yotsumoto-Fertrin is currently accepting new patients.

      Showing 1-8 of 8

      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 Washington, 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 Washington, 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 Washington, 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 Washington, 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 Washington, 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 Washington, 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 Washington, 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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