The 20 Best Pyruvate Carboxylase Deficiency Doctors in The United States

Find the Top Pyruvate Carboxylase Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 273 doctor with experience in Pyruvate Carboxylase Deficiency near The United States. Of these, 203 are Experienced, 63 are Advanced and 7 are Distinguished.

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273 providers found
    Distinguished in Pyruvate Carboxylase Deficiency
    Distinguished in Pyruvate Carboxylase Deficiency
    Referral may be required

    Northern Virginia

    3023 Hamaker Court, 
    Fairfax, VA 
    Languages Spoken:
    English, Russian
    Offers Telehealth

    Natasha Shur is a Pediatrics provider practicing medicine in Fairfax, Virginia. Dr. Shur is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), and Increased Head Circumference. Dr. Shur is board certified in American Board Of Medical Genetics And Genomics, 2007 and Clinical Genetics (MD): American Board Of Medical Genetics And Genomics, 2018.

    Distinguished in Pyruvate Carboxylase Deficiency
    Gastroenterology
    Distinguished in Pyruvate Carboxylase Deficiency
    Gastroenterology
    Referral may be required

    East Ann Arbor Ambulatory Surgery & Medical Procedures Center

    4270 Plymouth Rd, Entrance 4, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Allison Schulman is a Gastroenterologist practicing medicine in Ann Arbor, Michigan. Dr. Schulman is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 31 other conditions, according to our data. Her clinical expertise encompasses Gastrointestinal Fistula, Hereditary Pancreatitis, Choledocholithiasis, Gastric Bypass, and Endoscopy. Dr. Schulman is board certified in Gastroenterology. Dr. Schulman is currently accepting new patients.

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

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics. Dr. Narumanchi is currently accepting new patients.

    Learn about our expert tiers
    Experienced in Pyruvate Carboxylase Deficiency
    Experienced in Pyruvate Carboxylase Deficiency
    Referral may be required

    Westshore Primary Care Assoc Inc

    2535 Hale St Ste A, 
    Avon, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Matthew Kacir is a Pediatrics provider practicing medicine in Avon, Ohio. Dr. Kacir 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 Vitamin D Deficiency, Croup, Viral Gastroenteritis, and Pertussis. Dr. Kacir is currently accepting new patients.

    Experienced in Pyruvate Carboxylase Deficiency
    Medical Genetics
    Experienced in Pyruvate Carboxylase Deficiency
    Medical Genetics
    Referral may be required
    25 Michigan St Ne Ste 2100, 
    Grand Rapids, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Laurie Seaver is a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. Dr. Seaver 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 Hypotonia, 1p36 Deletion Syndrome, Smith-Magenis Syndrome, and Potocki-Lupski Syndrome. Dr. Seaver is currently accepting new patients.

    Distinguished in Pyruvate Carboxylase Deficiency
    Pediatrics | Medical Genetics
    Distinguished in Pyruvate Carboxylase Deficiency
    Pediatrics | Medical Genetics
    Referral may be required
    5323 Harry Hines Blvd, 
    Dallas, TX 
    Languages Spoken:
    English

    Ralph Deberardinis is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Deberardinis is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Pyruvate Carboxylase Deficiency, Cerebral Hypoxia, Gliomatosis Cerebri, and N-Acetylglutamate Synthase Deficiency.

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

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Rebecca Ganetzky is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Dihydrolipoamide Dehydrogenase Deficiency, Kearns-Sayre Syndrome, Pyruvate Carboxylase Deficiency, and Splenectomy.

    Distinguished in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Distinguished in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Iu Health Medical Group, LLC

    1701 N Senate Blvd, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Bryan Hainline is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Indianapolis, Indiana. Dr. Hainline is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 69 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Pyruvate Carboxylase Deficiency, Urea Cycle Disorders (UCD), and Inborn Amino Acid Metabolism Disorder. Dr. Hainline is currently accepting new patients.

    Distinguished in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Distinguished in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required
    3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Metabolism, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Neal Sondheimer is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Sondheimer is rated as a Distinguished provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Pyruvate Carboxylase Deficiency, Leigh Syndrome, PEPCK 1 Deficiency, and Homocystinuria.

    Distinguished in Pyruvate Carboxylase Deficiency
    Neuromusculoskeletal Medicine
    Distinguished in Pyruvate Carboxylase Deficiency
    Neuromusculoskeletal Medicine
    Referral may be required

    University Pathology Associates PLLC

    2500 N State St, 
    Jackson, MS 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Lamar Davis-Ii is a Neuromusculoskeletal Medicine provider practicing medicine in Jackson, Mississippi. Dr. Davis-Ii is rated as a Distinguished 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 PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, and Pyruvate Carboxylase Deficiency. Dr. Davis-Ii is currently accepting new patients.

    Advanced in Pyruvate Carboxylase Deficiency
    Nurse Practitioner
    Advanced in Pyruvate Carboxylase Deficiency
    Nurse Practitioner
    Referral may be required

    South Philadelphia Pediatrics

    1408 South Broad Street, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Elizabeth Bowman is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Bowman, NP is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

    Advanced in Pyruvate Carboxylase Deficiency
    Nurse Practitioner
    Advanced in Pyruvate Carboxylase Deficiency
    Nurse Practitioner
    Referral may be required

    South Philadelphia Pediatrics

    1408 South Broad Street, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Nicole Sue is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Sue, NP is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

    Advanced in Pyruvate Carboxylase Deficiency
    Pediatrics | Medical Genetics
    Advanced in Pyruvate Carboxylase Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    M Health Fairview Explorer Pediatric Specialty Clinic

    12th Flr, East Bld 2450 Riverside Ave, 
    Minneapolis, MN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Susan Berry is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Berry is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Propionic Acidemia, Argininosuccinic Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, and Alkaptonuria. Dr. Berry is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Pediatrics: American Board Of Pediatrics, 1983. Dr. Berry is currently accepting new patients.

    Advanced in Pyruvate Carboxylase Deficiency
    Pediatric Neurology | Pediatrics
    Advanced in Pyruvate Carboxylase Deficiency
    Pediatric Neurology | Pediatrics
    Referral may be required

    U Of M Neurology

    1500 E Medical Center Dr, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients

    Steven Leber is a Pediatric Neurologist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Leber is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Myoclonic Epilepsy, Seizures, Partial Seizure, and Dihydrolipoamide Dehydrogenase Deficiency. Dr. Leber is currently accepting new patients.

    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Michigan Pediatric Genetics Clinic

    1540 East Hospital Drive, Floor 6, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 130 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Maple Syrup Urine Disease. Dr. Quinonez is board certified in Pediatrics, American Board Of Pediatrics, Pediatrics - 2011, Clinical Biochemical Genetics, American Board Of Medical Genetics And Genomics, Medical Biochemical Genetics - 2015 , American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics - 2024 , and Clinical Genetics & Genomics. Dr. Quinonez is currently accepting new patients.

    Advanced in Pyruvate Carboxylase Deficiency
    Hematology | Otolaryngology
    Advanced in Pyruvate Carboxylase Deficiency
    Hematology | Otolaryngology
    Referral may be required

    AHN Cancer Institute-Med Onc & Infusions At Allegheny Valley Hospital

    1301 Carlisle Street, 
    Natrona Heights, PA 
    Languages Spoken:
    English, Russian
    Offers Telehealth

    Alexander Barsouk is a Hematologist and an Otolaryngologist practicing medicine in Natrona Heights, Pennsylvania. Dr. Barsouk is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Gastroesophageal Junction Cancer, Multiple Myeloma, Autosomal Recessive Congenital Methemoglobinemia, and PEPCK 1 Deficiency. Dr. Barsouk is board certified in American Board Of Internal Medicine - Hematology and Medical Oncology, American Board Of Internal Medicine.

    Advanced in Pyruvate Carboxylase Deficiency
    Pediatrics | Medical Genetics
    Advanced in Pyruvate Carboxylase Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Ornithine Transcarbamylase Deficiency, Biotinidase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics. Dr. Priestley is currently accepting new patients.

    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Referral required

    Duke University Hospital

    2301 Erwin Rd, 
    Durham, NC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Dwight Koeberl is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Koeberl is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Von Gierke Disease, Propionic Acidemia, and X-Linked Creatine Deficiency. Dr. Koeberl is board certified in American Board Of Medical Genetics, Clinical Biochemical Genetics , American Board Of Medical Genetics, Clinical Genetics And Genomics - General , and American Board Of Pediatrics, General Pediatrics. Dr. Koeberl is currently accepting new patients.

    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Pyruvate Carboxylase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Rubenstein Child Health Building

    200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
    Baltimore, MD 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Ada Hamosh is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Baltimore, Maryland. Dr. Hamosh 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 Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation. Dr. Hamosh is board certified in American Board Of Medical Genetics And Genomics. Dr. Hamosh is currently accepting new patients.

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

    MercyOne Waterloo Medical Center

    3421 W. 9th St., 
    Waterloo, IA 
    Languages Spoken:
    English, Hindi, Telugu
    Accepting New Patients

    Pradeep Velumula is a Neonatologist practicing medicine in Waterloo, Iowa. Dr. Velumula is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Premature Infant, Pyruvate Carboxylase Deficiency, TORCH Syndrome, Apnea of Prematurity, and Gastrostomy. Dr. Velumula is currently accepting new patients.

    Showing 1-20 of 273

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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 in The United States?

    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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