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    Last Updated: 10/30/2025

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    MediFind found 11 doctor with experience in Pyruvate Carboxylase Deficiency near Massachusetts, US. Of these, 7 are Experienced and 4 are Advanced.

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    LocationClose
    11 providers found
      Advanced in Pyruvate Carboxylase Deficiency
      Hematology | Hematology Oncology
      Advanced in Pyruvate Carboxylase Deficiency
      Hematology | Hematology Oncology

      Brigham And Womens Physicians Organization Inc

      75 Francis St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Nathan Connell is a Hematologist and a Hematologist Oncology provider in Boston, Massachusetts. Dr. Connell is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Von Willebrand Disease (VWD), Thrombocytopenia, Sickle Cell Disease, and Blood Clots. Dr. Connell is currently accepting new patients.

      Advanced in Pyruvate Carboxylase Deficiency
      Advanced in Pyruvate Carboxylase Deficiency

      Umass Memorial Medical Group Inc

      55 Lake Ave N, 
      Worcester, MA 
      Experience:
      17+ years
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Margaret Owegi is a Neurologist in Worcester, Massachusetts. Dr. Owegi has been practicing medicine for over 17 years and is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy Type 3, and Paramyotonia Congenita. Dr. Owegi is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in Pyruvate Carboxylase Deficiency
      Pediatrics | Pediatric Neurology | Neurology
      Advanced in Pyruvate Carboxylase Deficiency
      Pediatrics | Pediatric Neurology | Neurology

      C H Neurology Foundation Inc

      300 Longwood Ave, Bch3446, 
      Boston, MA 
      Languages Spoken:
      English

      Anna Pinto is a Pediatrics specialist and a Pediatric Neurologist in Boston, Massachusetts. Dr. Pinto is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Sturge-Weber Syndrome, Parkes Weber Syndrome, Seizures, and Epilepsy.

      Learn about our expert tiers
      Advanced in Pyruvate Carboxylase Deficiency
      Nurse Practitioner
      Advanced in Pyruvate Carboxylase Deficiency
      Nurse Practitioner

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, Bch3446, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Ann Paris is a Nurse Practitioner in Boston, Massachusetts. Ms. Paris is rated as an Advanced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Neurogenic Bowel, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency. Ms. Paris is currently accepting new patients.

      Experienced in Pyruvate Carboxylase Deficiency
      Medical Genetics
      Experienced in Pyruvate Carboxylase Deficiency
      Medical Genetics

      The General Hospital Corporation

      55 Fruit St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Amel Karaa is a Medical Genetics provider in Boston, Massachusetts. Dr. Karaa is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are MELAS Syndrome, Progressive External Ophthalmoplegia, Fabry Disease, and Multiple Sulfatase Deficiency. Dr. Karaa is currently accepting new patients.

      Experienced in Pyruvate Carboxylase Deficiency
      Neurology | Psychiatry
      Experienced in Pyruvate Carboxylase Deficiency
      Neurology | Psychiatry

      Umass Memorial Medical Group Inc

      55 Lake Ave N, 
      Worcester, MA 
      Languages Spoken:
      English

      Sheldon Benjamin is a Neurologist and a Psychiatrist in Worcester, Massachusetts. Dr. Benjamin is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Kluver Bucy Syndrome, Herpes Simplex Encephalitis, Seizures, and Memory Loss.

      Experienced in Pyruvate Carboxylase Deficiency
      Neurology | Psychiatry
      Experienced in Pyruvate Carboxylase Deficiency
      Neurology | Psychiatry

      Community Neuroscience Services LLC

      33 Lyman St, Suite 400, 
      Westborough, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Jordan Eisenstock is a Neurologist and a Psychiatrist in Westborough, Massachusetts. Dr. Eisenstock is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Memory Loss, Epilepsy, Concussion, and Seizures. Dr. Eisenstock is currently accepting new patients.

      Experienced in Pyruvate Carboxylase Deficiency
      Family Medicine
      Experienced in Pyruvate Carboxylase Deficiency
      Family Medicine
      24 Lyman St, Suite 300, 
      Westborough, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Daniel Freitas is a primary care provider, practicing in Family Medicine in Westborough, Massachusetts. Dr. Freitas is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Freitas is currently accepting new patients.

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

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Amy Kritzer is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Kritzer is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Smith-Lemli-Opitz Syndrome. Dr. Kritzer is currently accepting new patients.

      Experienced in Pyruvate Carboxylase Deficiency
      Hematology | Oncology
      Experienced in Pyruvate Carboxylase Deficiency
      Hematology | Oncology

      Dana-Farber Cancer Institute, Inc.

      450 Brookline Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Arielle Langer is a Hematologist and an Oncologist in Boston, Massachusetts. Dr. Langer is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. Her top areas of expertise are Sickle Cell Disease, Adult Immune Thrombocytopenia, Immune Thrombocytopenic Purpura (ITP), and Hemangioma Thrombocytopenia Syndrome. Dr. Langer is currently accepting new patients.

      Experienced in Pyruvate Carboxylase Deficiency
      Medical Genetics | Pediatric Neurology | Pediatrics
      Experienced in Pyruvate Carboxylase Deficiency
      Medical Genetics | Pediatric Neurology | Pediatrics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Lance Rodan is a Medical Genetics specialist and a Pediatric Neurologist in Boston, Massachusetts. Dr. Rodan is rated as an Experienced provider by MediFind in the treatment of Pyruvate Carboxylase Deficiency. His top areas of expertise are Hennekam Syndrome, Increased Head Circumference, Polymicrogyria, Retinopathy Pigmentary Mental Retardation, and Deep Brain Stimulation. Dr. Rodan is currently accepting new patients.

      Showing 1-11 of 11

      Last Updated: 10/30/2025

      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 Massachusetts, 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 Pyruvate Carboxylase Deficiency doctor in Massachusetts, 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 Pyruvate Carboxylase Deficiency doctors in Massachusetts, 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 Pyruvate Carboxylase Deficiency doctors in Massachusetts, 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 Pyruvate Carboxylase Deficiency doctor in Massachusetts, 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 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 Massachusetts, 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 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 Massachusetts, US?

      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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