The 20 Best Carbamoyl Phosphate Synthetase 1 Deficiency Doctors in The United Kingdom

Find the Top Carbamoyl Phosphate Synthetase 1 Deficiency Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 17 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near The United Kingdom. Of these, 9 are Experienced and 8 are Advanced.

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17 providers found
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Mildrid Yeo
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Mildrid Yeo
    Great Ormond Street Hospital For Children, 
    London, ENG, GB 

    Mildrid Yeo practices practicing medicine in London, United Kingdom. Ms. Yeo is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Carbamoyl Phosphate Synthetase 1 Deficiency, Argininosuccinic Aciduria, and Autosomal Recessive Cutis Laxa Type 1.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Sufin H. Yap
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Sufin H. Yap
    Sheffield, ENG, GB 

    Sufin Yap practices practicing medicine in Sheffield, United Kingdom. Yap is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Propionic Acidemia, Carbamoyl Phosphate Synthetase 1 Deficiency, Methylmalonic Acidemia, Homocystinuria, and Liver Transplant.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Julien Baruteau
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Julien Baruteau
    Great Ormond Street Hospital Biomedical Research Centre, 
    London, ENG, GB 

    Julien Baruteau practices practicing medicine in London, United Kingdom. Mr. Baruteau is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 17 other conditions, according to our data. His clinical expertise encompasses Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Orotic Aciduria Type 1, Ornithine Transcarbamylase Deficiency, and Liver Transplant.

    Learn about our expert tiers
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Stephanie Grunewald
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Stephanie Grunewald
    UCL Queen Square Institute Of Neurology, 
    London, ENG, GB 

    Stephanie Grunewald practices practicing medicine in London, United Kingdom. Ms. Grunewald is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Propionic Acidemia, SRD5A3-CDG, Urea Cycle Disorders (UCD), Classic Galactosemia, and Liver Transplant.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Emma J. Footitt
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Emma J. Footitt

    Great Ormond Street Hospital For Children NHS Foundation Trust

    London, ENG, GB 

    Emma Footitt practices practicing medicine in London, United Kingdom. Ms. Footitt is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Molybdenum Cofactor Deficiency (MoCD), Carbamoyl Phosphate Synthetase 1 Deficiency, Urea Cycle Disorders (UCD), Pyridoxine Deficiency, and Tenotomy.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Anupam B. Chakrapani
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Anupam B. Chakrapani

    Great Ormond Street Hospital

    London, ENG, GB 

    Anupam Chakrapani practices practicing medicine in London, United Kingdom. Mr. Chakrapani is rated as an Advanced expert 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 Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Propionic Acidemia, Pyruvate Carboxylase Deficiency, and Liver Transplant.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Preeya Rehsi
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Preeya Rehsi
    Great Ormond Street Hospital For Children, 
    London, ENG, GB 

    Preeya Rehsi practices practicing medicine in London, United Kingdom. Ms. Rehsi is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Carbamoyl Phosphate Synthetase 1 Deficiency, SRD5A3-CDG, Urea Cycle Disorders (UCD), and Argininosuccinic Aciduria.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Helen Prunty
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Helen Prunty

    Great Ormond Street Hospital NHS Trust

    London, ENG, GB 

    Helen Prunty practices practicing medicine in London, United Kingdom. Ms. Prunty is rated as an Advanced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Carbamoyl Phosphate Synthetase 1 Deficiency, Urea Cycle Disorders (UCD), Argininosuccinic Aciduria, and Pompe Disease.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Cinzia Papadia
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Cinzia Papadia
    London, ENG, GB 

    Cinzia Papadia practices practicing medicine in London, United Kingdom. Ms. Papadia is rated as an Experienced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her clinical expertise encompasses Viral Gastroenteritis, Carbamoyl Phosphate Synthetase 1 Deficiency, Indigestion, Colonoscopy, and Endoscopy.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Dr. George S. Sutton
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Dr. George S. Sutton
    London, ENG, GB 
    Languages Spoken:
    English
    See accepted insurances
    Accepting New Patients

    George Sutton practices practicing medicine in London, United Kingdom. Dr. Sutton is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Anemia, Urinary Tract Infection in Children, Urinary Tract Infection (UTI), Gastrostomy, and Endoscopy. Dr. Sutton is currently accepting new patients.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Veronica M. Pravata
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Veronica M. Pravata
    Dundee, SCT, GB 

    Veronica Pravata practices practicing medicine in Dundee, United Kingdom. Ms. Pravata is rated as an Experienced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her clinical expertise encompasses Carbamoyl Phosphate Synthetase 1 Deficiency, Periventricular Heterotopia, and Propionic Acidemia.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Andrew T. Ferenbach
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Andrew T. Ferenbach
    Dundee, SCT, GB 

    Andrew Ferenbach practices practicing medicine in Dundee, United Kingdom. Mr. Ferenbach is rated as an Experienced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His clinical expertise encompasses Carbamoyl Phosphate Synthetase 1 Deficiency, Aspergillosis, and Propionic Acidemia.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Alastair E. Forbes
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Alastair E. Forbes
    Norwich Research Park, 
    Norwich, ENG, GB 

    Alastair Forbes practices practicing medicine in Norwich, United Kingdom. Mr. Forbes is rated as an Experienced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Short Bowel Syndrome, Viral Gastroenteritis, Malnutrition, Colonoscopy, and Endoscopy.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Karolina M. Stepien
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Karolina M. Stepien
    Stott Lane, 
    Salford, ENG, GB 

    Karolina Stepien practices practicing medicine in Salford, United Kingdom. Ms. Stepien is rated as an Experienced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 25 other conditions, according to our data. Her clinical expertise encompasses Classic Galactosemia, Enlarged Liver, Ornithine Transcarbamylase Deficiency, Gastrostomy, and Liver Transplant.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Daan F. Van Aalten
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Daan F. Van Aalten
    Dundee, SCT, GB 

    Daan Van Aalten practices practicing medicine in Dundee, United Kingdom. Van Aalten is rated as an Experienced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Their clinical expertise encompasses Aspergillosis, Carbamoyl Phosphate Synthetase 1 Deficiency, Propionic Acidemia, and Hepatoblastoma.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    David J. Ralph
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    David J. Ralph

    Uclh

    London, ENG, GB 

    David Ralph practices practicing medicine in London, United Kingdom. Mr. Ralph is rated as an Experienced expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Priapism, Peyronie Disease, Erectile Dysfunction (ED), Penectomy, and Reconstructive Urology Surgery.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Dr. Stephanie P. Little
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

    Dr. Stephanie P. Little
    Oxford, ENG, GB 
    See accepted insurances

    Stephanie Little practices practicing medicine in Oxford, United Kingdom. Dr. Little is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Seasonal Affective Disorder (SAD), Major Depression, Insomnia, and Kwashiorkor.

    While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
    Showing 1-17 of 17

    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 in The United Kingdom?

    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 in The United Kingdom?

    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 do I find the best Carbamoyl Phosphate Synthetase 1 Deficiency doctor in The United Kingdom?

    You can find a Carbamoyl Phosphate Synthetase 1 Deficiency doctor in any of the 10 largest U.S. cities by clicking below:

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    How does MediFind rank Carbamoyl Phosphate Synthetase 1 Deficiency doctors in The United Kingdom?

    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 in The United Kingdom?

    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 in The United Kingdom?

    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 in The United Kingdom?

    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 in The United Kingdom?

    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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