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

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 24 doctor with experience in PEPCK 1 Deficiency near New York, US. Of these, 19 are Experienced and 5 are Advanced.

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24 providers found
    Experienced in PEPCK 1 Deficiency
    Colorectal Surgery
    Experienced in PEPCK 1 Deficiency
    Colorectal Surgery

    Rockefeller Outpatient Pavilion

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

    Philip Paty is 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
    Gastroenterology
    Experienced in PEPCK 1 Deficiency
    Gastroenterology
    4900 Hempstead Turnpike, 
    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

    Mount Sinai

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

    Sheemon Zackai is 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), Pyruvate Carboxylase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and PEPCK 1 Deficiency.

    Learn about our expert tiers
    Advanced in PEPCK 1 Deficiency
    Pediatrics
    Advanced in PEPCK 1 Deficiency
    Pediatrics

    Mount Sinai School Of Medicine

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

    Jaya Ganesh is 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 Danon 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. His top areas of expertise are Autosomal Recessive Congenital Methemoglobinemia, Pyruvate Dehydrogenase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Carboxylase Deficiency.

    Advanced in PEPCK 1 Deficiency
    Advanced in PEPCK 1 Deficiency

    Mount Sinai School Of Medicine

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

    Ibrahim Elsharkawi is a Pediatrics 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, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Tyrosinemia Type 1.

    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. His top areas of expertise are PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Dehydrogenase Deficiency.

    Advanced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Advanced 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 Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Micrognathia, Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and Methylmalonic Acidemia with Homocystinuria.

    Jennifer M. Bain
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology

    CUIMC/Harkness Pavilion

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

    Jennifer Bain, MD, PhD, is an Associate Professor of Neurology and Pediatrics at the Columbia University Medical Center. Dr. Bain completed both an MD and PhD, as well as general pediatrics residency at Rutgers – New Jersey Medical School in New Jersey. She then trained in Child Neurology at NewYork-Presbyterian/Columbia University Irving Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology seeing both inpatient and outpatient pediatric neurology patients. Her clinic focuses on diagnosis and management of autism, cerebral palsy and neurodevelopmental disorders in addition to genetic disorders associated with such conditions.Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy. During her residency training, her clinical research focused on studying autonomic dysfunction in children with autism spectrum disorders and neurological complications during extracorporeal membrane oxygenation. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in development, behavioral neurology, autism and cerebral palsy. Her clinical research has focused on studying the genetics of neurodevelopmental disorders including autism and cerebral palsy. The genes she has worked closely on include HNRNPH2 and related disorders, GRIN disorders, KIF1A. She is interested in understanding clinically meaningful measures in families affected by neurodevelopmental disorders and measuring longitudinal trajectories in such disorders. She has been working closely with several patient advocacy groups, researchers, and Simons Searchlight to continuously move forward in the understanding of the developing and aging brain. 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.

    Eduardo C. Beauchamp
    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    ColumbiaDoctors - Tarrytown

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

    Dr. Eduardo C. Beauchamp is an Assistant Professor of Orthopedic Surgery with Columbia University’s Department of Orthopedic Surgery and is a board-certified Orthopedic Spine Surgeon. His practice focuses on operative treatment of both adult and pediatric spine conditions, including complex spinal deformity, scoliosis, spondylolisthesis, cervical, thoracic and lumbar degenerative conditions, spinal stenosis and disc herniations. He employs minimally invasive techniques, robotic and CT guided navigation for instrumentation as well as open spine surgical techniques to provide an individualized and comprehensive approach to surgical treatment of spinal pathology. Born and raised in San Juan, Puerto Rico, Dr. Beauchamp completed medical school and orthopedic surgery residency at the University of Puerto Rico. He then completed an initial fellowship in Orthopedic Spine Surgery at Twin Cities Spine Center in Minneapolis, MN, followed by a second fellowship in Advanced Pediatric Spine Deformity at Columbia University/New York-Presbyterian Hospital. Before joining the faculty at Columbia University, Dr. Beauchamp served as an adult and pediatric spine surgeon and head of clinical research at Twin Cities Spine Center and Gillette Children’s Hospital in Minneapolis, MN, where he practiced for seven years. He has received numerous awards, written multiple book chapters and peer reviewed research papers on adult and pediatric spine surgery and been selected as a Top Doctors’ Rising Stars. In addition to his clinical practice, he is also involved in the training of national and international spine surgeons, as well as medical students and Orthopedic Surgery residents. His research interests include adult and pediatric scoliosis, as well as cervical and lumbar degenerative conditions, work he has presented on the national and international level. Dr. Beauchamp is an active member of the American Academy of Orthopedic Surgeons (AAOS), North American Spine Society (NASS), Scoliosis Research Society (SRS), Pediatric Spine Study Group (PSSG), and Puerto Rico Orthopedic Society. In his free time, he enjoys golfing, deep sea fishing and spending time with his wife and family. Dr. 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.

    Alejandro D. Iglesias
    Experienced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics

    CUIMC/NewYork-Presbyterian Morgan Stanley Children's Hospital

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

    Alejandro Iglesias, MD is Assistant Professor of Pediatrics, Director of the Inherited Metabolic Program, Program Director of the Medical Genetics Residency program and Attending Physician in the Division of Medical Genetics, Department of Pediatrics at New York Presbyterian Hospital/Columbia University Medical Center. He is a clinical and biochemical geneticist primarily interested in inherited metabolic disorders and neurogenetics and dysmorphology. In his role as Director of the Inherited Metabolic Program he is deeply involved in all aspects related with the diagnosis, management and overall care of patients and families with these disorders. In addition, he is in charge of the education of young physicians and medical students in the field of IMD. As an educator, he is in charge of the medical biochemistry lecture series for the first year medical students at the Physicians & Surgeons Medical School at Columbia University paving the way for a new generations of brilliant medical students at Columbia University. Finally, his involvement with the diagnosis and care of patients with X-linked adrenoleukodystrophy has been one of his main accomplishments in the recent years, especially since the introduction of newborn screening in New York State. He has a been involved from the beginning in the development of the program and is active member of the NYS group of metabolic physicians taking care of these patients. In addtion he has been actively involved in all developments asscoiated with newborn screening for Krabbe disease and Pompe disease. Dr. Iglesias is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Hypotonia, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia.

    Experienced in PEPCK 1 Deficiency
    Pulmonary Medicine
    Experienced in PEPCK 1 Deficiency
    Pulmonary Medicine

    University Of Rochester

    601 Elmwood Ave, 
    Rochester, NY 
    Languages Spoken:
    English

    David Trawick is a Pulmonary 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, Asthma, Cerebral Hypoxia, Lung Metastases, and Gastrostomy.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Mount Sinai

    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, PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, 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
    Offers Telehealth

    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 Phenylketonuria (PKU).

    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Experienced in PEPCK 1 Deficiency
    Palliative Medicine

    University Of Rochester

    601 Elmwood Ave, 
    Rochester, NY 
    Languages Spoken:
    English

    Robert Holloway is 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, Pyruvate Carboxylase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Gastrostomy, and Thrombectomy.

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

    Brain & Spine Medical Services PLLC

    400 International Dr, 
    Buffalo, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Julian Jr is an Internal Medicine provider in Buffalo, New York. Dr. Jr is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Glycogen Storage Disease Type 9, Adenosine Monophosphate Deaminase Deficiency, Glycogen Storage Disease Type 7, and Glycogen Storage Disease Type 13.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Rockefeller Outpatient Pavilion

    160 E 53rd St, 
    New York, NY 
    Languages Spoken:
    English
    Accepting New Patients
    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. Dr. Saltz is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Rockefeller Outpatient Pavilion

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

    Yelena Janjigian is an Oncologist 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. Dr. Janjigian is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Office

    415 E 68th St Rm 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, Colorectal Cancer, Breast Cancer, and Melanoma.

    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.

    Showing 1-20 of 24

    Last Updated: 04/28/2026

    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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