The 20 Best Carbamoyl Phosphate Synthetase 1 Deficiency Doctors Near Me in Boston, MA

Find the Top Carbamoyl Phosphate Synthetase 1 Deficiency Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 18 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Boston, MA. Of these, 16 are Experienced and 2 are Advanced.

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18 providers found
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Massachusetts General Physicians Organization Inc

    55 Fruit St, 
    Boston, MA 
     (0.8 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    David Sweetser is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sweetser is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Hypotonia, Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and Propionic Acidemia. Dr. Sweetser is board certified in Pediatrics, Clinical Biochemical Genetics, Pediatric Hematology-Oncology, and Clinical Genetics And Genomics.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sacharow is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 158 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

    Learn about our expert tiers
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics

    The General Hospital Corporation

    55 Fruit St, 
    Boston, MA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Inderneel Sahai is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sahai is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Maple Syrup Urine Disease, Phenylketonuria (PKU), Increased Head Circumference, and De Barsy Syndrome. Dr. Sahai is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Family Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Family Medicine

    Online Care Network II PC

    75 State St Fl 26, 
    Boston, MA 
     (0.9 miles away)
    Languages Spoken:
    English

    Jeremiah Dewitt is a primary care provider, practicing in Family Medicine in Boston, Massachusetts. Dr. Dewitt is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Dementia, Anemia, End-Stage Renal Disease (ESRD), and Glucocorticoid-Remediable Aldosteronism.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics

    Department Of Neurology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Lance Rodan is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Rodan is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 172 other conditions, according to our data. His clinical expertise encompasses Polymicrogyria, Hennekam Syndrome, Increased Head Circumference, and Cortical Dysplasia.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Melinda Peters is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Peters is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 32 other conditions, according to our data. Her clinical expertise encompasses N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), and Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome).

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Olaf Bodamer is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Bodamer is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Kabuki Syndrome, Classic Galactosemia, Niemann-Pick Disease, and Microcephaly. Dr. Bodamer is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    300 Longwood Ave, Hunnewell 5, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Anne O'donnell-Luria is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. O'donnell-Luria is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Chromosome 11 Uniparental Disomy, Pallister-Killian Mosaic Syndrome, Chromosome 6 Uniparental Disomy, and Chromosome 2 Uniparental Disomy. Dr. O'donnell-Luria is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    William Brucker is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Brucker is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Wolman Disease, Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency, and Fetal Thalidomide Syndrome.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Philip Boone is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Boone is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Cornelia De Lange Syndrome, Hennekam Syndrome, Cardiofaciocutaneous Syndrome, and Noonan Syndrome. Dr. Boone is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Michael Duyzend is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Duyzend is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His clinical expertise encompasses Frontometaphyseal Dysplasia, Pyle Disease, Autism Spectrum Disorder, and Chondrodystrophy. Dr. Duyzend is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    300 Longwood Ave, Boston Children's Hospital, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Gerard Berry is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Berry is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Galactosemia, Galactose Epimerase Deficiency, and Maple Syrup Urine Disease. Dr. Berry is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Childrens Hospital, 300 Longwood Ave./genetics, Feg, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Wen-hann Tan is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Tan is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Incontinentia Pigmenti, Congenital Athymia, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Tan is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine

    Brigham And Womens Physicians Organization Inc

    70 Francis St, 
    Boston, MA 
     (3.0 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Vivian Mitchell is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Mitchell is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Glomus Tympanum Tumor, Glomus Jugulare Tumor, Osteoarthritis, and Liver Failure. Dr. Mitchell is board certified in Internal Medicine.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    80 Pleasant St, Apt #51, 
    Brookline, MA 
     (3.3 miles away)
    Languages Spoken:
    English

    Yuval Landau is a Medical Genetics provider practicing medicine in Brookline, Massachusetts. Dr. Landau is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Orotic Aciduria Type 1, Urea Cycle Disorders (UCD), and Maple Syrup Urine Disease.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine

    LYNN Community Health Center

    269 Union St, 
    Lynn, MA 
     (9.5 miles away)
    Languages Spoken:
    English

    Giulia Scarantino is a primary care provider, practicing in Internal Medicine in Lynn, Massachusetts. Dr. Scarantino is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her clinical expertise encompasses Lymphangitis, Cellulitis, N-Acetylglutamate Synthase Deficiency, and Carbamoyl Phosphate Synthetase 1 Deficiency.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine

    Ajay Anand MD PC

    29 Deer Path Ln, 
    Weston, MA 
     (13.6 miles away)
    Languages Spoken:
    English

    Ajay Anand is a primary care provider, practicing in Internal Medicine in Weston, Massachusetts. Dr. Anand is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 98 other conditions, according to our data. His clinical expertise encompasses Dementia, Painful Swallowing, Swallowing Difficulty, and Transient Erythroblastopenia of Childhood.

    Showing 1-18 of 18

    Last Updated: 04/28/2026

    What is the definition of Carbamoyl Phosphate Synthetase 1 Deficiency?

    Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.

    When should I see a Carbamoyl Phosphate Synthetase 1 Deficiency doctor near Boston, MA?

    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 Carbamoyl Phosphate Synthetase 1 Deficiency doctor near Boston, MA?

    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 Carbamoyl Phosphate Synthetase 1 Deficiency doctors near Boston, MA?

    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 Carbamoyl Phosphate Synthetase 1 Deficiency doctors near Boston, MA?

    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 Carbamoyl Phosphate Synthetase 1 Deficiency doctor near Boston, MA?

    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 Carbamoyl Phosphate Synthetase 1 Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different Carbamoyl Phosphate Synthetase 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 Carbamoyl Phosphate Synthetase 1 Deficiency doctor near Boston, MA?

    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 Carbamoyl Phosphate Synthetase 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 Carbamoyl Phosphate Synthetase 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 Carbamoyl Phosphate Synthetase 1 Deficiency doctors near Boston, MA?

    Look for the filter feature on the left side of the Carbamoyl Phosphate Synthetase 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 Carbamoyl Phosphate Synthetase 1 Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the Carbamoyl Phosphate Synthetase 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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