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    Last Updated: 10/30/2025

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    MediFind found 23 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Boston, MA. Of these, 21 are Experienced and 2 are Advanced.

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    23 providers found
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatrics | Pediatric Hematology Oncology
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatrics | Pediatric Hematology Oncology

      Massachusetts General Physicians Organization Inc

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

      David Sweetser is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sweetser is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Hypotonia, Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, and Propionic Acidemia. Dr. Sweetser is currently accepting new patients.

      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 in Boston, Massachusetts. Dr. Sacharow is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      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 in Boston, Massachusetts. Dr. Sahai is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Maple Syrup Urine Disease, Phenylketonuria (PKU), Increased Head Circumference, and De Barsy Syndrome. Dr. Sahai is currently accepting new patients.

      Learn about our expert tiers
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      55 Fruit St # 015, 
      Boston, MA 
       (0.8 miles away)
      Languages Spoken:
      English

      Sami Elamin is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Elamin is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Arginase Deficiency, N-Acetylglutamate Synthase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, Endoscopy, and Colonoscopy.

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

      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 Carbamoyl Phosphate Synthetase 1 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 Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatric Neurology | Pediatrics
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatric Neurology | Pediatrics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
       (2.8 miles away)
      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 Carbamoyl Phosphate Synthetase 1 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.

      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, Bch3446, 
      Boston, MA 
       (2.8 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Melinda Peters is a Medical Genetics provider in Boston, Massachusetts. Dr. Peters is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy 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, Bch3446, 
      Boston, MA 
       (2.8 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Olaf Bodamer is a Medical Genetics provider in Boston, Massachusetts. Dr. Bodamer is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Kabuki Syndrome, Classic Galactosemia, Niemann-Pick Disease, and Mucopolysaccharidoses (MPS). 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 in Boston, Massachusetts. Dr. O'donnell-Luria is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Chromosome 11 Uniparental Disomy, Mosaic Variegated Aneuploidy Syndrome, Chromosome 2 Uniparental Disomy, and Tetrasomy 9p. 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 in Boston, Massachusetts. Dr. Brucker is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Wolman Disease, 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 in Boston, Massachusetts. Dr. Boone is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Hennekam Syndrome, Noonan Syndrome, Cardiomyopathic Lentiginosis, and Cardiofaciocutaneous 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 in Boston, Massachusetts. Dr. Duyzend is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are 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 in Boston, Massachusetts. Dr. Berry is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Classic Galactosemia, Galactose Epimerase Deficiency, Galactosemia, 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 in Boston, Massachusetts. Dr. Tan is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Incontinentia Pigmenti, Congenital Athymia, EEC Syndrome, and AEC Syndrome. 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

      75 Francis St, 
      Boston, MA 
       (2.9 miles away)
      Languages Spoken:
      English

      Hina Malik is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Malik is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Sepsis, Pneumonia, Acute Kidney Failure, Colonoscopy, and Endoscopy.

      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
      Accepting New Patients
      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. Her top areas of expertise are Glomus Tympanum Tumor, Glomus Jugulare Tumor, Osteoarthritis, and Liver Failure. Dr. Mitchell is currently accepting new patients.

      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 in Brookline, Massachusetts. Dr. Landau is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Urea Cycle Disorders (UCD), and Orotic Aciduria Type 1.

      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      170 Governors Ave, Lawrence Memorial Hospital, 
      Medford, MA 
       (5.6 miles away)
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Giulia Scarantino is a primary care provider, practicing in Internal Medicine in Medford, Massachusetts. Dr. Scarantino is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Lymphangitis, Cellulitis, N-Acetylglutamate Synthase Deficiency, and Carbamoyl Phosphate Synthetase 1 Deficiency. Dr. Scarantino is currently accepting new patients.

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

      Medical Care Of Boston Management Corporation

      464 Hillside Ave, Suite 302, 
      Needham, MA 
       (10.3 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Alain-marc Werner is a primary care provider, practicing in Internal Medicine in Needham, Massachusetts. Dr. Werner is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Hypothyroidism, Obesity in Children, Familial Hypertension, and Hypertension. Dr. Werner is currently accepting new patients.

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

      Harbor Medical Associates Inc

      541 Main St, Suite 400, 
      South Weymouth, MA 
       (12.7 miles away)
      Languages Spoken:
      English

      Kashana Karim is a primary care provider, practicing in Internal Medicine in South Weymouth, Massachusetts. Dr. Karim is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Chronic Cough, Vertigo, Hypoparathyroidism, and Infant Hyperglycemia.

      Showing 1-20 of 23

      Last Updated: 10/30/2025

      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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