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    Last Updated: 03/06/2025

     
     
     
     
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    MediFind found 17 doctor with experience in PEPCK 1 Deficiency. Of these, 12 are Experienced and 5 are Advanced.

    Location:
    17 providers found
    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Memorial Solid Tumor Group

    1275 York Ave, 
    New York, NY 
     (12.9 mi)
    Languages Spoken:
    English
    Offers Telehealth

    Leonard Saltz is an Oncologist in New York, New York. Dr. Saltz and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Colorectal Cancer, Lynch Syndrome, Anal Cancer, Liver Embolization, and Tissue Biopsy.

    Experienced in PEPCK 1 Deficiency
    General Surgery | Colorectal Surgery | Surgical Oncology
    Experienced in PEPCK 1 Deficiency
    General Surgery | Colorectal Surgery | Surgical Oncology

    Mskcc Surgery Group

    1275 York Ave, 
    New York, NY 
     (12.9 mi)
    Languages Spoken:
    English
    Offers Telehealth

    Philip Paty is a General Surgeon and a Colorectal Surgeon in New York, New York. Dr. Paty and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Colorectal Cancer, Anal Cancer, Lynch Syndrome, Colostomy, and Ileostomy.

    What does Elite, Distinguished, Advanced, Experienced mean?
    Experienced in PEPCK 1 Deficiency
    Hematology Oncology | Hematology | Oncology
    Experienced in PEPCK 1 Deficiency
    Hematology Oncology | Hematology | Oncology

    Memorial Solid Tumor Group

    1275 York Ave, 
    New York, NY 
     (12.9 mi)
    Languages Spoken:
    English
    Offers Telehealth

    Yelena Janjigian is a Hematologist Oncology specialist and a Hematologist in New York, New York. Dr. Janjigian and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Gastroesophageal Junction Cancer, Stomach Cancer, Esophageal Cancer, Liver Embolization, and Endoscopy.

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    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    415 E 68th St, Room 1345, 
    New York, NY 
     (13.0 mi)
    Languages Spoken:
    English

    Sohail Tavazoie is an Oncologist in New York, New York. Dr. Tavazoie and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Breast Cancer, PEPCK 1 Deficiency, Colorectal Cancer, and Melanoma.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    1 Gustave L Levy Pl, Box 1512, 
    New York, NY 
     (13.2 mi)
    Languages Spoken:
    English

    Kimihiko Oishi is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Oishi and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Micrognathia, Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and N-Acetylglutamate Synthase Deficiency.

    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
     (94.5 mi)
    Experience:
    15+ years
    Languages Spoken:
    English

    Rebecca Ganetzky is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ganetzky has been practicing medicine for over 15 years and is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Leigh Syndrome, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Metabolism, 
    Philadelphia, PA 
     (94.6 mi)
    Languages Spoken:
    English

    Neal Sondheimer is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Sondheimer and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, MELAS Syndrome, PEPCK 1 Deficiency, and Homocystinuria.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    University Of Penn - Medical Group

    1501 N Cedar Crest Blvd, 110 Penn Medicine Gi Transplant Lehigh Va, 
    Allentown, PA 
     (95.4 mi)
    Languages Spoken:
    English

    Ethan Weinberg is a Hepatologist in Allentown, Pennsylvania. Dr. Weinberg and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Hepatitis, Liver Failure, Hepatorenal Syndrome, Liver Transplant, and Endoscopy.

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

    Geisinger Clinic

    1000 E Mountain Dr, 
    Wilkes Barre, PA 
     (115.4 mi)
    Languages Spoken:
    English

    Michel Hoessly is a Hematologist Oncology specialist and a Hematologist in Wilkes Barre, Pennsylvania. Dr. Hoessly and is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Thrombocytopenia, Autoimmune Hemolytic Anemia, Schnitzler Syndrome, and Monoclonal Gammopathy of Undetermined Significance (MGUS).

    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency

    Umass Memorial Medical Group Inc

    55 Lake Ave N, 
    Worcester, MA 
     (147.6 mi)
    Experience:
    17+ years
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Margaret Owegi is a Neurologist in Worcester, Massachusetts. Dr. Owegi has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy Type 3, and Paramyotonia Congenita. Dr. Owegi 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 
     (174.9 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Nathan Connell is a Hematologist and a Hematologist Oncology provider in Boston, Massachusetts. Dr. Connell and 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, 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

    The General Hospital Corporation

    55 Fruit St, 
    Boston, MA 
     (177.6 mi)
    Languages Spoken:
    English, Italian
    Accepting New Patients
    Offers Telehealth

    Amel Karaa is a Medical Genetics provider in Boston, Massachusetts. Dr. Karaa and is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are MELAS Syndrome, Fabry Disease, Multiple Sulfatase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts. Dr. Karaa is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Neurology | Psychiatry
    Experienced in PEPCK 1 Deficiency
    Neurology | Psychiatry

    Umass Memorial Medical Group Inc

    55 Lake Ave N, 
    Worcester, MA 
     (147.6 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Sheldon Benjamin is a Neurologist and a Psychiatrist in Worcester, Massachusetts. Dr. Benjamin and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Kluver Bucy Syndrome, Susac Syndrome, Herpes Simplex Encephalitis, and Seizures. Dr. Benjamin is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Ophthalmology
    Experienced in PEPCK 1 Deficiency
    Ophthalmology
    1565 N Main St, Ste 406, 
    Fall River, MA 
     (150.3 mi)
    Languages Spoken:
    English

    Kevin Obrien is an Ophthalmologist in Fall River, Massachusetts. Dr. Obrien and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Craniometaphyseal Dysplasia, Fountain Syndrome, PEPCK 1 Deficiency, Facial Paralysis, and Myringotomy.

    Experienced in PEPCK 1 Deficiency
    Family Medicine
    Experienced in PEPCK 1 Deficiency
    Family Medicine
    24 Lyman St, Suite 300, 
    Westborough, MA 
     (153.2 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Daniel Freitas is a Family Medicine provider in Westborough, Massachusetts. Dr. Freitas and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Arachnodactyly, Marfan Syndrome, Horner Syndrome, and Pyruvate Carboxylase Deficiency. Dr. Freitas is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Neurology | Psychiatry
    Experienced in PEPCK 1 Deficiency
    Neurology | Psychiatry

    Community Neuroscience Services LLC

    33 Lyman St, Suite 400, 
    Westborough, MA 
     (153.3 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jordan Eisenstock is a Neurologist and a Psychiatrist in Westborough, Massachusetts. Dr. Eisenstock and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Memory Loss, Epilepsy, Seizures, and Concussion. Dr. Eisenstock is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Hematology | Oncology
    Experienced in PEPCK 1 Deficiency
    Hematology | Oncology

    Dana-Farber Cancer Institute, Inc.

    450 Brookline Ave, 
    Boston, MA 
     (174.9 mi)
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Arielle Langer is a Hematologist and an Oncologist in Boston, Massachusetts. Dr. Langer and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Sickle Cell Disease, Thalassemia, Immune Thrombocytopenic Purpura (ITP), and Adult Immune Thrombocytopenia. Dr. Langer is currently accepting new patients.

    Showing 1-17 of 17

    Last Updated: 03/06/2025

    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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