The 20 Best PEPCK 1 Deficiency Doctors Near Me in New York, US

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 23 doctor with experience in PEPCK 1 Deficiency near New York, US. Of these, 19 are Experienced and 4 are Advanced.

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23 providers found
    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency
    Referral may be required

    Mount Sinai School Of Medicine

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

    Jaya Ganesh is a Pediatrics provider practicing medicine in New York, New York. Dr. Ganesh is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 27 other conditions, according to our data. Her clinical expertise encompasses 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

    Imaging Center-Henrietta

    50 Middle 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. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Pyruvate Dehydrogenase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency
    Referral may be required

    Mount Sinai School Of Medicine

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

    Ibrahim Elsharkawi is a Pediatrics provider practicing medicine in New York, New York. Dr. Elsharkawi is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Carnitine Palmitoyltransferase 2 Deficiency, Carnitine Palmitoyltransferase 1 Deficiency, and Glycogen Storage Disease Type 3.

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

    Cattaraugus Indian Reservation Health Center

    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. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency.

    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Referral may be required

    CUIMC/Harkness Pavilion

    180 Fort Washington Avenue, 
    New York, NY 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Jennifer Bain is a Pediatric Neurologist practicing medicine in New York, New York. Dr. Bain is rated as an Experienced provider 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 HNRNPH2-Related Disorder, Autism Spectrum Disorder, Cerebral Palsy, and Early Infantile Epileptic Encephalopathy. Dr. Bain is board certified in Neurology With Special Qualification In Child Neurology. Dr. Bain is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    ColumbiaDoctors - Tarrytown

    155 White Plains Road, 
    Tarrytown, NY 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Eduardo Beauchamp is an Orthopedics provider practicing medicine in Tarrytown, New York. Dr. Beauchamp is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Spinal Stenosis, Microdiscectomy, and Cervical Disc Surgery. Dr. Beauchamp is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    CUIMC/NewYork-Presbyterian Morgan Stanley Children's Hospital

    3959 Broadway, 
    New York, NY 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Alejandro Iglesias is a Pediatrics specialist and a Medical Genetics provider practicing medicine in New York, New York. Dr. Iglesias is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Hypotonia, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia. Dr. Iglesias is board certified in Pediatrics, Clinical Genetics And Genomics (MD), and Clinical Biochemical Genetics. Dr. Iglesias is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pulmonary Medicine
    Experienced in PEPCK 1 Deficiency
    Pulmonary Medicine
    Referral may be required

    University Of Rochester

    601 Elmwood Ave, 
    Rochester, NY 
    Languages Spoken:
    English
    Offers Telehealth

    David Trawick is a Pulmonary Medicine provider practicing medicine in Rochester, New York. Dr. Trawick is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Asthma in Children, Asthma, Cerebral Hypoxia, Lung Metastases, and Gastrostomy.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Mount Sinai

    1 Gustave L Levy Pl, 
    New York, NY 
    Languages Spoken:
    English

    Emily Hertzberg is a Pediatrics provider practicing medicine in New York, New York. Dr. Hertzberg is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Infant Botulism, Autosomal Recessive Congenital Methemoglobinemia, PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Adenoidectomy.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Icahn School Of Medicine At Mount Sinai

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

    Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New York, New York. Dr. Breilyn is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 42 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency, and Phenylketonuria (PKU).

    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Referral may be required

    University Of Rochester

    601 Elmwood Ave, 
    Rochester, NY 
    Languages Spoken:
    English

    Robert Holloway is a Palliative Medicine provider practicing medicine in Rochester, New York. Dr. Holloway is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His clinical expertise encompasses PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required
    1 Gustave L Levy Pl, Box 1512, 
    New York, NY 
    Languages Spoken:
    English

    Kimihiko Oishi is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New York, New York. Dr. Oishi is rated as an Experienced 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 Micrognathia, Urea Cycle Disorders (UCD), Ornithine Translocase Deficiency, and Ornithine Transcarbamylase Deficiency.

    Experienced in PEPCK 1 Deficiency
    Internal Medicine
    Experienced in PEPCK 1 Deficiency
    Internal Medicine

    Kaleida Health

    100 High St, 
    Buffalo,, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Julian Jr is a primary care provider, practicing in Internal Medicine in Buffalo,, New York. Dr. Jr is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Thymidine Kinase 2 Deficiency (TK2d), Mitochondrial Complex 3 Deficiency, Coenzyme Q Cytochrome C Reductase Deficiency, and Mitochondrial Complex 2 Deficiency.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Rockefeller Outpatient Pavilion

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

    Leonard Saltz is an Oncologist practicing medicine in New York, New York. Dr. Saltz is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Colorectal Cancer, Squamous Cell Carcinoma of the Anal Canal (SCAC), Lynch Syndrome, Liver Embolization, and Tissue Biopsy. Dr. Saltz is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Colorectal Surgery
    Experienced in PEPCK 1 Deficiency
    Colorectal Surgery
    Referral may be required

    Rockefeller Outpatient Pavilion

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

    Philip Paty is a Colorectal Surgeon practicing medicine in New York, New York. Dr. Paty is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Colorectal Cancer, Anal Cancer, Squamous Cell Carcinoma of the Anal Canal (SCAC), Colostomy, and Ileostomy. Dr. Paty is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Rockefeller Outpatient Pavilion

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

    Yelena Janjigian is an Oncologist practicing medicine in New York, New York. Dr. Janjigian is rated as an Experienced 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 Gastroesophageal Junction Cancer, Stomach Cancer, Esophageal Cancer, Endoscopy, and Liver Embolization. Dr. Janjigian is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Office

    415 E 68th St Rm 1345, 
    New York, NY 
    Languages Spoken:
    English

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

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Regional Program For Prentatal Detection

    601 Elmwood Ave Box, 
    Rochester, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Chin-to Fong is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Rochester, New York. Dr. Fong is rated as an Experienced 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 Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency.

    Experienced in PEPCK 1 Deficiency
    Gastroenterology
    Experienced in PEPCK 1 Deficiency
    Gastroenterology
    Referral may be required
    4900 Hempstead Turnpike, 
    Farmingdale, NY 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Ronald Fagan is a Gastroenterologist practicing medicine in Farmingdale, New York. Dr. Fagan is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Gastric Dysmotility, Macroamylasemia, Colitis, and Viral Gastroenteritis. Dr. Fagan is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Primary Care-Mount Sinai Queens Ambulatory Pavilion

    2520 30th Ave, 
    Astoria, NY 
    Languages Spoken:
    English

    Rachel Brozinsky is a Pediatrics provider practicing medicine in Astoria, New York. Dr. Brozinsky is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Multiple Pterygium Syndrome X Linked, Poland Syndrome, Multiple Pterygium Syndrome, and Amniotic Band Syndrome.

    Showing 1-20 of 23

    Last Updated: 09/26/2026

    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 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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