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    Last Updated: 01/09/2026

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    MediFind found 37 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Johnson City, TN. Of these, 35 are Experienced and 2 are Advanced.

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    37 providers found
      Bert J. Smith
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      Renuven Health Partners

      2717 E Oakland Ave, 
      Johnson City, TN 
       (1.8 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Anemia, Nephrosclerosis, Renovascular Hypertension, and Hypertensive Heart Disease.

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Shankle is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Lung Metastases, Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Hip Replacement, and Ureteroscopy.

      Frank P. Johnson
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Johnson is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Breast Cancer, Gastroesophageal Reflux Disease (GERD), Hypertension, and Glucocorticoid-Remediable Aldosteronism.

      Learn about our expert tiers
      Jeremy N. Elliott
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English

      Dr Nathan Elliott is a board-certified family physician. He welcomes patients of all ages and has special interests in diabetes care, skin conditions and preventive health. Dr. Elliott is on the clinical faculty at LMU-DeBusk College of Osteopathic Medicine, West Virginia School of Osteopathic Medicine and Pikeville College School of Osteopathic Medicine. Dr. Elliott is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Type 2 Diabetes (T2D), Hypertension, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension.

      Mark A. Williams
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Williams is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Sitosterolemia, Undifferentiated Connective Tissue Disease (UCTD), High Cholesterol, and Psoriatic Arthritis.

      Michael Z. Pearson
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      FirstChoice Internal Medicine

      301 Med Tech Pkwy, Ste 280, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Pearson is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Sitosterolemia, Vitamin D Deficiency, Folate Deficiency, and Multiple Carboxylase Deficiency.

      Sergio A. Diaz
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English

      . Dr. Diaz is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Cellulitis, Acute Cystitis, Sepsis, Ureteroscopy, and Gastrostomy.

      Paula R. Smith
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Atypical Pneumonia, Hospital-Acquired Pneumonia, Low Sodium Level, Pacemaker Implantation, and Endoscopy.

      Amy L. Proffitt
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      FirstChoice Internal Medicine

      301 Med Tech Pkwy, Ste 280, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Proffitt is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Infant Hyperglycemia, Sitosterolemia, Multiple Carboxylase Deficiency, and Folate Deficiency.

      Matthew D. Garrison
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Hospital Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Hospital Medicine

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English

      . Dr. Garrison is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Sepsis, Atypical Pneumonia, Hospital-Acquired Pneumonia, Pacemaker Implantation, and Gastrostomy.

      Randy W. Hoover
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Hoover is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Lung Metastases, Atypical Pneumonia, Hospital-Acquired Pneumonia, Ureteroscopy, and Hip Replacement.

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

      ETSU Physicians & Associates- Pediatrics

      325 N State Of Franklin Rd, 
      Johnson City, TN 
       (2.6 miles away)
      Languages Spoken:
      English

      . Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

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

      Blue Ridge Family Medicine

      101 Med Tech Pkwy, Ste 100, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Way is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are High Cholesterol, Chronic Obstructive Pulmonary Disease (COPD), Type 2 Diabetes (T2D), and Familial Hypertension.

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English

      . Dr. Jones is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Atypical Pneumonia, Hospital-Acquired Pneumonia, Pneumonia, Acute Cystitis, and Ureteroscopy.

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Matherne is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Lymphangitis, Sitosterolemia, Osteomyelitis in Children, and Type 2 Diabetes (T2D).

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English

      . Dr. Adams is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Sepsis, Hospital-Acquired Pneumonia, Atypical Pneumonia, and Acute Cystitis.

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English

      . Dr. Farmer is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Sepsis, Atypical Pneumonia, Hospital-Acquired Pneumonia, and Gastrointestinal Bleeding.

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English

      . Dr. Malik is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Pneumonia, End-Stage Renal Disease (ESRD), Sepsis, Ureteroscopy, and Hip Replacement.

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Nuckolls is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Gallbladder Disease, Atypical Pneumonia, Hospital-Acquired Pneumonia, Ureteroscopy, and Pacemaker Implantation.

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

      Johnson City Internal Medicine

      301 Med Tech Pkwy, Ste 240, 
      Johnson City, TN 
       (3.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      . Dr. Bazouni is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Myelodysplastic Syndrome (MDS), Atypical Pneumonia, Hospital-Acquired Pneumonia, Ureteroscopy, and Hip Replacement.

      Showing 1-20 of 37

      Last Updated: 01/09/2026

      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 Johnson City, TN?

      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 Johnson City, TN?

      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 Johnson City, TN?

      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 Johnson City, TN?

      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 Johnson City, TN?

      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 Johnson City, TN?

      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 Johnson City, TN?

      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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