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    Last Updated: 10/30/2025

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    MediFind found 19 doctor with experience in N-Acetylglutamate Synthase Deficiency near Italy. Of these, 17 are Experienced and 2 are Advanced.

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    19 providers found
      Advanced in N-Acetylglutamate Synthase Deficiency

      Catia Cavicchi
      Advanced in N-Acetylglutamate Synthase Deficiency

      Catia Cavicchi
      Florence, IT 

      Catia Cavicchi practices in Florence, Italy. Ms. Cavicchi is rated as an Advanced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are N-Acetylglutamate Synthase Deficiency, Homocystinuria, Barth Syndrome, and Urea Cycle Disorders (UCD).

      Advanced in N-Acetylglutamate Synthase Deficiency

      Albina M. Tummolo
      Advanced in N-Acetylglutamate Synthase Deficiency

      Albina M. Tummolo
      Bari, IT 

      Albina Tummolo practices in Bari, Italy. Ms. Tummolo is rated as an Advanced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), N-Acetylglutamate Synthase Deficiency, Maternal Hyperphenylalaninemia, Urea Cycle Disorders (UCD), and Bone Marrow Transplant.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Experienced in N-Acetylglutamate Synthase Deficiency

      Federica Ortolani
      Experienced in N-Acetylglutamate Synthase Deficiency

      Federica Ortolani
      Bari, IT 

      Federica Ortolani practices in Bari, Italy. Ms. Ortolani is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Osteopoikilosis, N-Acetylglutamate Synthase Deficiency, Wolfram Syndrome, and Diabetic Ketoacidosis.

      Learn about our expert tiers
      Experienced in N-Acetylglutamate Synthase Deficiency

      Silvia Funghini
      Experienced in N-Acetylglutamate Synthase Deficiency

      Silvia Funghini
      Florence, IT 

      Silvia Funghini practices in Florence, Italy. Ms. Funghini is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Purine Nucleoside Phosphorylase Deficiency, Biotinidase Deficiency, Multiple Carboxylase Deficiency, and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

      Experienced in N-Acetylglutamate Synthase Deficiency

      Francesco S. Papadia
      Experienced in N-Acetylglutamate Synthase Deficiency

      Francesco S. Papadia
      Genoa, IT 

      Francesco Papadia practices in Genoa, Italy. Mr. Papadia is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Obesity, Osteopoikilosis, N-Acetylglutamate Synthase Deficiency, Sleeve Gastrectomy, and Gastrectomy.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Amelia Morrone
      Experienced in N-Acetylglutamate Synthase Deficiency

      Amelia Morrone
      Florence, IT 

      Amelia Morrone practices in Florence, Italy. Ms. Morrone is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), and PMM2-Congenital Disorder of Glycosylation.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Laura Rubert
      Experienced in N-Acetylglutamate Synthase Deficiency

      Laura Rubert
      Verona, IT 

      Laura Rubert practices in Verona, Italy. Ms. Rubert is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), N-Acetylglutamate Synthase Deficiency, Mucopolysaccharidoses (MPS), and Evans Syndrome.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Alberto B. Burlina
      Experienced in N-Acetylglutamate Synthase Deficiency

      Alberto B. Burlina
      Padova, IT 

      Alberto Burlina practices in Padova, Italy. Mr. Burlina is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Classic Galactosemia, Methylmalonic Acidemia, and Liver Transplant.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Chiara Chilleri
      Experienced in N-Acetylglutamate Synthase Deficiency

      Chiara Chilleri
      Florence, IT 

      Chiara Chilleri practices in Florence, Italy. Ms. Chilleri is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Mucolipidosis Type 4, N-Acetylglutamate Synthase Deficiency, Sialidosis, and Mucolipidosis 3.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Lorenzo Ferri
      Experienced in N-Acetylglutamate Synthase Deficiency

      Lorenzo Ferri
      Bologna, IT 

      Lorenzo Ferri practices in Bologna, Italy. Mr. Ferri is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are PMM2-Congenital Disorder of Glycosylation, Linear Hamartoma Syndrome, Delayed Growth, Epilepsy, and Liver Transplant.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Paolo Calabresi
      Experienced in N-Acetylglutamate Synthase Deficiency

      Paolo Calabresi
      Rome, IT 

      Paolo Calabresi practices in Rome, Italy. Mr. Calabresi is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Movement Disorders, Parkinson's Disease, Neurotoxicity Syndromes, Thrombectomy, and Deep Brain Stimulation.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Maria A. Donati
      Experienced in N-Acetylglutamate Synthase Deficiency

      Maria A. Donati
      Florence, IT 

      Maria Donati practices in Florence, Italy. Ms. Donati is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are MELAS Syndrome, Delayed Growth, Pompe Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome).

      Experienced in N-Acetylglutamate Synthase Deficiency

      Cinzia Costa
      Experienced in N-Acetylglutamate Synthase Deficiency

      Cinzia Costa
      Perugia, IT 

      Cinzia Costa practices in Perugia, Italy. Ms. Costa is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Epilepsy, Myoclonic Epilepsy, Lafora Disease, and Dentatorubral-Pallidoluysian Atrophy.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Giancarlo La Marca
      Experienced in N-Acetylglutamate Synthase Deficiency

      Giancarlo La Marca
      Florence, IT 

      Giancarlo La Marca practices in Florence, Italy. Mr. La Marca is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Purine Nucleoside Phosphorylase Deficiency, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

      Experienced in N-Acetylglutamate Synthase Deficiency

      Elisabetta Pasquini
      Experienced in N-Acetylglutamate Synthase Deficiency

      Elisabetta Pasquini
      Florence, IT 

      Elisabetta Pasquini practices in Florence, Italy. Ms. Pasquini is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Short-Chain Acyl-CoA Dehydrogenase Deficiency, N-Acetylglutamate Synthase Deficiency, Homocystinuria, and Urea Cycle Disorders (UCD).

      Experienced in N-Acetylglutamate Synthase Deficiency

      Paolo Prontera
      Experienced in N-Acetylglutamate Synthase Deficiency

      Paolo Prontera
      Perugia, IT 

      Paolo Prontera practices in Perugia, Italy. Mr. Prontera is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. His top areas of expertise are Shapiro Syndrome, FG Syndrome, Chromosome 4q Duplication, and Myoclonic Epilepsy.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Giulia Polo
      Experienced in N-Acetylglutamate Synthase Deficiency

      Giulia Polo
      Padova, IT 

      Giulia Polo practices in Padova, Italy. Ms. Polo is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Niemann-Pick Disease, Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), and Mucopolysaccharidoses (MPS).

      Experienced in N-Acetylglutamate Synthase Deficiency

      Elvira Piccinno
      Experienced in N-Acetylglutamate Synthase Deficiency

      Elvira Piccinno
      Bari, IT 

      Elvira Piccinno practices in Bari, Italy. Ms. Piccinno is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Type 1 Diabetes (T1D), Low Blood Sugar, N-Acetylglutamate Synthase Deficiency, and Diabetic Ketoacidosis.

      Experienced in N-Acetylglutamate Synthase Deficiency

      Francesca Pochiero
      Experienced in N-Acetylglutamate Synthase Deficiency

      Francesca Pochiero
      Florence, IT 

      Francesca Pochiero practices in Florence, Italy. Ms. Pochiero is rated as an Experienced expert by MediFind in the treatment of N-Acetylglutamate Synthase Deficiency. Her top areas of expertise are Cytochrome C Oxidase Deficiency, Hyperlysinemia, N-Acetylglutamate Synthase Deficiency, and Phenylketonuria (PKU).

      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 1-19 of 19

      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 in Italy?

      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 in Italy?

      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 N-Acetylglutamate Synthase Deficiency doctor in Italy?

      You can find a N-Acetylglutamate Synthase Deficiency doctor in any of the 10 largest U.S. cities by clicking below:

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      How does MediFind rank N-Acetylglutamate Synthase Deficiency doctors in Italy?

      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 in Italy?

      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 in Italy?

      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 in Italy?

      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 in Italy?

      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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