The 20 Best Pyruvate Carboxylase Deficiency Doctors Near Me in New York, NY

Find the Top Pyruvate Carboxylase Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 18 doctor with experience in Pyruvate Carboxylase Deficiency near New York, NY. Of these, 14 are Experienced and 4 are Advanced.

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18 providers found
    Advanced in Pyruvate Carboxylase Deficiency
    Advanced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Advanced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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.

    Advanced in Pyruvate Carboxylase Deficiency
    Internal Medicine
    Advanced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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.

    Learn about our expert tiers
    Advanced in Pyruvate Carboxylase Deficiency
    Internal Medicine
    Advanced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Pediatric Neurology
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Pediatrics | Medical Genetics
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Pulmonary Medicine
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Palliative Medicine
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency. His clinical expertise encompasses PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

    Experienced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Internal Medicine
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase Deficiency
    Referral may be required

    Office

    6 Mountain Ledge, 
    Gansevoort, NY 
    Languages Spoken:
    English

    Stephanie Jorgensen is a Pediatrics provider practicing medicine in Gansevoort, New York. Dr. Jorgensen is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Obesity in Children, Croup, Streptococcal Group A Infection, and Stork Bite.

    Experienced in Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase Deficiency
    Referral may be required

    Mount Sinai

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

    Sheemon Zackai is a Pediatrics provider practicing medicine in New York, New York. Dr. Zackai is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Multisystem Inflammatory Syndrome in Children (MIS-C), Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Carboxylase Deficiency. Dr. Zackai is currently accepting new patients.

    Experienced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Internal Medicine
    Experienced in Pyruvate Carboxylase Deficiency
    Internal Medicine

    Office

    4781 Broadway, 
    New York, NY 
    Languages Spoken:
    English

    John Rausch is a primary care provider, practicing in Internal Medicine in New York, New York. Dr. Rausch is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Obesity in Children, Obesity, Pyruvate Carboxylase Deficiency, and Pyruvate Dehydrogenase Deficiency.

    Experienced in Pyruvate Carboxylase Deficiency
    Gastroenterology
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 1-18 of 18

    Last Updated: 09/26/2026

    What is the definition of Pyruvate Carboxylase Deficiency?

    Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.

    When should I see a Pyruvate Carboxylase Deficiency doctor near New York, NY?

    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 Pyruvate Carboxylase Deficiency doctor near New York, NY?

    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 Pyruvate Carboxylase Deficiency doctors near New York, NY?

    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 Pyruvate Carboxylase Deficiency doctors near New York, NY?

    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 Pyruvate Carboxylase Deficiency doctor near New York, NY?

    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 Pyruvate Carboxylase Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency doctor near New York, NY?

    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 Pyruvate Carboxylase 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 Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency doctors near New York, NY?

    Look for the filter feature on the left side of the Pyruvate Carboxylase 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 Pyruvate Carboxylase Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the Pyruvate Carboxylase 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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