The 20 Best Carbamoyl Phosphate Synthetase 1 Deficiency Doctors Near Me

Find Doctors who have experience with Phenylbutyrate

Last Updated: 09/26/2026

Save doctors for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Already have a doctor?
Find A Second Opinion

MediFind found 13 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency.

Location
LocationClose
13 providers found
    Elite in Carbamoyl Phosphate Synthetase 1 Deficiency
    Elite in Carbamoyl Phosphate Synthetase 1 Deficiency
    Referral may be required
    Lyon, FR 

    Nathalie Guffon practices practicing medicine in Lyon, France. Ms. Guffon is rated as an Elite expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Alpha Mannosidosis, Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidoses (MPS), and Niemann-Pick Disease.

    Elite in Carbamoyl Phosphate Synthetase 1 Deficiency
    Pediatrics | Medical Genetics
    Elite in Carbamoyl Phosphate Synthetase 1 Deficiency
    Pediatrics | Medical Genetics
    Referral may be required
    2 Greenway Plz, Suite 900, 
    Houston, TX 
    Languages Spoken:
    English

    Nicola Brunetti-Pierri is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Brunetti-Pierri is rated as an Elite provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 39 other conditions, according to our data. His clinical expertise encompasses Crigler-Najjar Syndrome, Rotor Syndrome, Pyruvate Decarboxylase Deficiency, and Argininosuccinic Aciduria.

    Elite in Carbamoyl Phosphate Synthetase 1 Deficiency
    Elite in Carbamoyl Phosphate Synthetase 1 Deficiency
    Referral may be required
    Zurich, ZH, CH 

    Johannes Haberle practices practicing medicine in Zurich, Switzerland. Mr. Haberle is rated as an Elite expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Citrullinemia, Carbamoyl Phosphate Synthetase 1 Deficiency, and Liver Transplant.

    Learn about our expert tiers
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Referral may be required
    1 Baylor Plz # Bcm225, 
    Houston, TX 
    Languages Spoken:
    English

    Sarah Elsea is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Elsea is rated as a Distinguished 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 Smith-Magenis Syndrome, Potocki-Lupski Syndrome, Hypotonia, and Zellweger Syndrome.

    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics | Physiatry
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics | Physiatry
    Referral may be required

    Childrens Health Care Associates Inc

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

    Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished 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 Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Gaucher Disease.

    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Pediatrics | Medical Genetics
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    University Of Pittsburgh Physicians

    4401 Penn Ave, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Uta Lichter-Konecki is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as a Distinguished provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.

    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    University Physicians Incorporated

    13123 E 16th Ave, 
    Aurora, CO 
    Languages Spoken:
    English
    Accepting New Patients

    Shawn Mccandless is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Aurora, Colorado. Dr. Mccandless is rated as a Distinguished 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 Prader-Willi Syndrome, Urea Cycle Disorders (UCD), Cornelia De Lange Syndrome, and Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2). Dr. Mccandless is currently accepting new patients.

    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Referral may be required
    2450 Holcombe Blvd # O270e, 
    Houston, TX 
    Languages Spoken:
    English

    Qin Sun is a Medical Genetics provider practicing medicine in Houston, Texas. Dr. Sun is rated as a Distinguished 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 Urea Cycle Disorders (UCD), Purine Nucleoside Phosphorylase Deficiency, Molybdenum Cofactor Deficiency (MoCD), Argininosuccinic Aciduria, and Colonoscopy.

    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Referral may be required
    Hangzhou, CN 

    Xinwen Huang practices practicing medicine in Hangzhou, China. Huang is rated as a Distinguished expert by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Citrullinemia, Urea Cycle Disorders (UCD), Primary Carnitine Deficiency, and Isovaleric Acidemia.

    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Distinguished in Carbamoyl Phosphate Synthetase 1 Deficiency
    Referral may be required

    Great Ormond Street Hospital

    London, ENG, GB 

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

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Referral may be required
    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
    Medical Genetics
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Medical Genetics
    Referral may be required
    700 Children's Drive, 
    Columbus, OH 
    Languages Spoken:
    English
    Accepting New Patients

    Dennis Bartholomew is a Medical Genetics provider practicing medicine in Columbus, Ohio. Dr. Bartholomew is rated as an Advanced provider 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 Microcephaly, Urea Cycle Disorders (UCD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Achalasia Microcephaly Syndrome. Dr. Bartholomew is currently accepting new patients.

    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Referral may be required

    Great Ormond Street Hospital For Children NHS Foundation Trust

    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 Glycogen Storage Disease Type 9.

    Showing 1-13 of 13

    Last Updated: 09/26/2026

    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 me?

    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 me?

    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 me?

    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 me?

    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 me?

    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 me?

    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 me?

    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 

    Read more about our Content Policy.