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    Last Updated: 10/30/2025

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    MediFind found 7 doctor with experience in N-Acetylglutamate Synthase Deficiency.

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    7 providers found
      Elite in N-Acetylglutamate Synthase Deficiency
      Elite in N-Acetylglutamate Synthase Deficiency
      Zurich, ZH, CH 

      Johannes Haberle practices in Zurich, Switzerland. Mr. Haberle is rated as an Elite expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, N-Acetylglutamate Synthase Deficiency, Citrullinemia, and Liver Transplant.

      Elite in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics
      Elite in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics

      Texas Childrens Physician Group

      6651 Main St, 
      Houston, TX 
      Languages Spoken:
      English
      Accepting New Patients

      Brendan Lee is a Medical Genetics specialist and a Pediatrics provider in Houston, Texas. Dr. Lee is rated as an Elite provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), Osteogenesis Imperfecta, and Spondyloepimetaphyseal Dysplasia Strudwick Type. Dr. Lee is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Distinguished in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics | Physiatry
      Distinguished in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics | Physiatry

      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 in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Classic Galactosemia, Urea Cycle Disorders (UCD), Galactose Epimerase Deficiency, and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome).

      Learn about our expert tiers
      Distinguished in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics
      Distinguished in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics
      111 Michigan Ave Nw, 5th Floor Research, Suite 5700, 
      Washington, DC 
      Languages Spoken:
      English

      Nicholas Ah Mew is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Ah Mew is rated as a Distinguished provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Maple Syrup Urine Disease, Argininosuccinic Aciduria, and Propionic Acidemia.

      Distinguished in N-Acetylglutamate Synthase Deficiency
      Pediatrics | Medical Genetics
      Distinguished in N-Acetylglutamate Synthase Deficiency
      Pediatrics | Medical Genetics

      University Of Pittsburgh Physicians

      4401 Penn Ave, 
      Pittsburgh, PA 
      Languages Spoken:
      English

      Uta Lichter-Konecki is a Pediatrics specialist and a Medical Genetics provider in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as a Distinguished provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.

      Gerard Vockley
      Advanced in N-Acetylglutamate Synthase Deficiency
      Advanced in N-Acetylglutamate Synthase Deficiency

      Medical Genetics Metabolic In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Gerard (Jerry) Vockley MD, PhD, is a medical geneticist and is certified in clinical genetics and biochemical and molecular genetics by the American Board of Medical Genetics and Genomics. He is chief of the Division of Medical Genetics, director of the Center for Rare Disease Therapy, and is the Cleveland Family Endowed Professor of pediatric research at the University of Pittsburgh School of Medicine. He completed his medical degree and PhD at the University of Pennsylvania and completed his residency at the University of Colorado, followed by his fellowship at Yale University School of Medicine. Dr. Vockley is rated as an Advanced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency.

      Advanced in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics
      Advanced in N-Acetylglutamate Synthase Deficiency
      Medical Genetics | Pediatrics
      304 Putnam St, 
      Marietta, OH 
      Languages Spoken:
      English
      Accepting New Patients

      Dennis Bartholomew is a Medical Genetics specialist and a Pediatrics provider in Marietta, Ohio. Dr. Bartholomew is rated as an Advanced provider by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Microcephaly, Urea Cycle Disorders (UCD), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Achalasia Microcephaly Syndrome. Dr. Bartholomew is currently accepting new patients.

      To see more doctors, please expand your search radius or view related conditions below.

      Urea Cycle Disorders (UCD)

      Showing 1-7 of 7

      Last Updated: 10/30/2025

      What is the definition of N-Acetylglutamate Synthase Deficiency?

      N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase Deficiency doctor search results page. 

      Why is it important to get a second opinion from a different N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase Deficiency doctors near me?

      Look for the filter feature on the left side of the N-Acetylglutamate Synthase 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 N-Acetylglutamate Synthase Deficiency doctor that offers video calls?

      Look for the filter feature on the left-side of the N-Acetylglutamate Synthase 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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