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    Last Updated: 10/30/2025

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    MediFind found 24 doctor with experience in PEPCK 1 Deficiency near New York, US. Of these, 20 are Experienced and 4 are Advanced.

    Location
    LocationClose
    24 providers found
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics

      Icahn School Of Medicine At Mount Sinai

      1428 Madison Ave, 
      New York, NY 
      Languages Spoken:
      English

      Jaya Ganesh is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Ganesh is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Pompe Disease, and Fabry Disease.

      Advanced in PEPCK 1 Deficiency
      Internal Medicine
      Advanced in PEPCK 1 Deficiency
      Internal Medicine
      3875 E Henrietta Rd, 
      Henrietta, NY 
      Languages Spoken:
      English

      James Horohoe is a primary care provider, practicing in Internal Medicine in Henrietta, New York. Dr. Horohoe is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Pyruvate Carboxylase Deficiency, Pyruvate Dehydrogenase Deficiency, PEPCK 1 Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in PEPCK 1 Deficiency
      Pediatrics | Medical Genetics
      Advanced in PEPCK 1 Deficiency
      Pediatrics | Medical Genetics

      Icahn School Of Medicine At Mount Sinai

      1428 Madison Ave, 
      New York, NY 
      Languages Spoken:
      English

      Ibrahim Elsharkawi is a Pediatrics specialist and a Medical Genetics provider in New York, New York. Dr. Elsharkawi is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are MELAS Syndrome, Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Tyrosinemia Type 2.

      Learn about our expert tiers
      Advanced in PEPCK 1 Deficiency
      Internal Medicine
      Advanced in PEPCK 1 Deficiency
      Internal Medicine

      Seneca Nation Of Indians

      36 Thomas Indian School Dr, 
      Irving, NY 
      Languages Spoken:
      English

      Thomas Mcternan is a primary care provider, practicing in Internal Medicine in Irving, New York. Dr. Mcternan is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Pyruvate Dehydrogenase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

      Experienced in PEPCK 1 Deficiency
      Pulmonary Medicine | Intensive Care Medicine
      Experienced in PEPCK 1 Deficiency
      Pulmonary Medicine | Intensive Care Medicine

      Pulmonary Disease Clinical Group

      601 Elmwood Ave, 
      Rochester, NY 
      Languages Spoken:
      English

      David Trawick is a Pulmonary Medicine specialist and an Intensive Care Medicine provider in Rochester, New York. Dr. Trawick is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Asthma in Children, Meningococcemia, Asthma, Cerebral Hypoxia, and Gastrostomy.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency
      1 Gustave L Levy Pl, 
      New York, NY 
      Languages Spoken:
      English

      Emily Hertzberg is a Pediatrics provider in New York, New York. Dr. Hertzberg is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Infant Botulism, Pyruvate Carboxylase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, and Adenoidectomy.

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

      Icahn School Of Medicine At Mount Sinai

      1428 Madison Ave, 
      New York, NY 
      Languages Spoken:
      English

      Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Breilyn is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency, and Tyrosinemia Type 1.

      Experienced in PEPCK 1 Deficiency
      Neurology | Palliative Medicine
      Experienced in PEPCK 1 Deficiency
      Neurology | Palliative Medicine

      University Of Rochester

      601 Elmwood Ave, 
      Rochester, NY 
      Languages Spoken:
      English

      Robert Holloway is a Neurologist and a Palliative Medicine provider in Rochester, New York. Dr. Holloway is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Stroke, PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Gastrostomy, and Thrombectomy.

      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 
      Languages Spoken:
      English

      Kimihiko Oishi is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Oishi is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Micrognathia, Citrullinemia, Urea Cycle Disorders (UCD), and Methylmalonic Acidemia with Homocystinuria.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      Memorial Solid Tumor Group

      160 E 53rd St, 
      New York, NY 
      Languages Spoken:
      English
      Offers Telehealth

      Leonard Saltz is an Oncologist in New York, New York. Dr. Saltz 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 
      Languages Spoken:
      English
      Offers Telehealth

      Philip Paty is a General Surgeon and a Colorectal Surgeon in New York, New York. Dr. Paty 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.

      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 
      Languages Spoken:
      English
      Offers Telehealth

      Yelena Janjigian is a Hematologist Oncology specialist and a Hematologist in New York, New York. Dr. Janjigian 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.

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

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

      Experienced in PEPCK 1 Deficiency
      Allergy and Immunology
      Experienced in PEPCK 1 Deficiency
      Allergy and Immunology

      Brain And Spine Medical Services PLLC

      400 International Dr, 
      Williamsville, NY 
      Experience:
      46+ years
      Languages Spoken:
      English
      Offers Telehealth

      Julian Ambrus is an Allergy and Immunologist in Williamsville, New York. Dr. Ambrus has been practicing medicine for over 46 years and is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Adenosine Monophosphate Deaminase Deficiency, Glycogen Storage Disease Type 0, Phosphoglycerate Mutase Deficiency, and Glycogen Storage Disease Type 13.

      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Neurology
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Neurology

      Trustees Of Columbia University In The City Of New York

      51 W 51st St, Fl 3 Suite 360, 
      New York, NY 
      Languages Spoken:
      English
      Offers Telehealth

      Jennifer Bain is a Pediatric Neurologist and a Neurologist in New York, New York. Dr. Bain is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are HNRNPH2-Related Disorder, Autism Spectrum Disorder, Early Infantile Epileptic Encephalopathy, and Cerebral Palsy.

      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      601 Elmwood Ave Box, 
      Rochester, NY 
      Languages Spoken:
      English
      Offers Telehealth

      Chin-to Fong is a Medical Genetics specialist and a Pediatrics provider in Rochester, New York. Dr. Fong is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      Trustees Of Columbia University In The City Of New York

      622 W 168th St, 
      New York, NY 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Eduardo Colom-Beauchamp is an Orthopedics provider in New York, New York. Dr. Colom-Beauchamp is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Scoliosis, Kyphosis, Spinal Stenosis, Microdiscectomy, and Herniated Disc Surgery. Dr. Colom-Beauchamp is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Gastroenterology
      Experienced in PEPCK 1 Deficiency
      Gastroenterology

      Ronald C Fagan M. D. P.C..

      4900 Hempstead Tpke, 
      Farmingdale, NY 
      Languages Spoken:
      English
      Offers Telehealth

      Ronald Fagan is a Gastroenterologist in Farmingdale, New York. Dr. Fagan is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Gastric Dysmotility, Macroamylasemia, Colitis, and Viral Gastroenteritis.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency
      2520 30th Ave Fl 4, 
      Astoria, NY 
      Languages Spoken:
      English

      Rachel Brozinsky is a Pediatrics provider in Astoria, New York. Dr. Brozinsky is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Multiple Pterygium Syndrome, Amniotic Band Syndrome, Multiple Pterygium Syndrome X Linked, and Poland Syndrome.

      Experienced in PEPCK 1 Deficiency
      Intensive Care Medicine | Pediatrics
      Experienced in PEPCK 1 Deficiency
      Intensive Care Medicine | Pediatrics
      525 E 68th St, 
      New York, NY 
      Languages Spoken:
      English

      Sheemon Zackai is an Intensive Care Medicine specialist and a Pediatrics provider in New York, New York. Dr. Zackai is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

      Showing 1-20 of 24

      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 New York, 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 New York, 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 New York, 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 New York, 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 New York, 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 New York, 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 New York, 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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