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    Last Updated: 10/30/2025

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    MediFind found 20 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Pittsburgh, PA. Of these, 20 are Experienced.

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    20 providers found
      Raelynn Forsyth
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics

      Medical Genetics Metabolic In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
       (3.0 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      RaeLynn Forsyth, MD, specializes in medical genetics as well as pediatric genetics and genomics and is board-certified by the American Board of Pediatrics and the American Board of Medical Genetics and Genomics. She practices at Medical Genetics Metabolic in Lawrenceville, Medical Genetics in Lawrenceville, and Medical Genetics in Erie and is affiliated with UPMC Hamot, UPMC Children's Hospital of Pittsburgh, UPMC Magee-Womens Hospital, and UPMC Presbyterian. Dr. Forsyth completed her medical degree and a fellowship at the University of Pittsburgh School of Medicine in addition to a residency and fellowship at The Johns Hopkins University School of Medicine. Dr. Forsyth is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Inborn Amino Acid Metabolism Disorder, and Carbamoyl Phosphate Synthetase 1 Deficiency.

      Gerard Vockley
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

      Medical Genetics Metabolic In Lawrenceville

      4401 Penn Avenue, 
      Pittsburgh, PA 
       (3.0 miles away)
      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 Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      1350 Locust St, Suite 103, 
      Pittsburgh, PA 
       (0.6 miles away)
      Languages Spoken:
      English

      Diana Lemley is a primary care provider, practicing in Internal Medicine in Pittsburgh, Pennsylvania. Dr. Lemley is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Carbamoyl Phosphate Synthetase 1 Deficiency, N-Acetylglutamate Synthase Deficiency, Arginase Deficiency, and Urea Cycle Disorders (UCD).

      Learn about our expert tiers
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Pediatrics | Medical Genetics
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Pediatrics | Medical Genetics

      University Of Pittsburgh Physicians

      4401 Penn Ave, 
      Pittsburgh, PA 
       (3.0 miles away)
      Languages Spoken:
      English

      Uta Lichter-Konecki is a Pediatrics specialist and a Medical Genetics provider in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.

      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Geriatrics | Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Geriatrics | Family Medicine
      4727 Friendship Ave, Suite 200, 
      Pittsburgh, PA 
       (3.1 miles away)
      Languages Spoken:
      English

      Sumana Bangalore is a primary care provider, practicing in Geriatrics and Family Medicine in Pittsburgh, Pennsylvania. Dr. Bangalore is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Alzheimer's Disease, Primary Familial Brain Calcification, Olivopontocerebellar Atrophy, and Cerebelloolivary Atrophy.

      Scott E. Recalde
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Munhall Family Medicine- UPMC

      2000 West Street, 
      Munhall, PA 
       (5.6 miles away)
      Languages Spoken:
      English, Italian, Spanish
      Accepting New Patients
      Offers Telehealth

      Scott Recalde, MD, specializes in family medicine and is certified in family medicine by the American Board of Family Medicine. He practices at Munhall Family Medicine-UPMCShadyside. He completed his residency at the University of Pittsburgh School of Medicine. Dr. Recalde is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Hemiplegia, Arginase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, and N-Acetylglutamate Synthase Deficiency.

      Louis W. Heyl
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      GMA/Heyl Family Practice

      1020 Center Avenue, 
      Pittsburgh, PA 
       (6.0 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Louis Heyl is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. Dr. Heyl is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Gardner-Diamond Syndrome, Autoerythrocyte Sensitivity, Purpura, and Gout.

      Venkatlaxman B. Reddy
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      UPMC Western BH-Specialty Outpatient Services

      225 Penn Avenue, 
      Wilkinsburg, PA 
       (7.0 miles away)
      Languages Spoken:
      English, Hindi, Telugu
      Offers Telehealth

      Venkatlaxman Reddy, MD, specializes in internal medicine and is certified by the American Board of Internal Medicine. He practices at UPMC Community Psychiatry and is affiliated with UPMC McKeesport, UPMC Presbyterian, and UPMC Mercy. He completed his medical degree at Guntur Medical College, and residency at the University of Pittsburgh School of Medicine. Dr. Reddy is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Delirium Tremens, Opioid Use Disorder, Alcoholic Neuropathy, and Acute Respiratory Distress Syndrome (ARDS).

      Daniel K. Grob
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Grob, Scheri, Woodburn And Griffin Family Medicine

      1140 Perry Highway, 
      Pittsburgh, PA 
       (7.9 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Daniel Grob, MD, specializes and is certified in family medicine by the American Board of Family Medicine. He practices at Grob, Scheri, Woodburn and Griffin Family Medicine. Dr. Grob is affiliated with UPMC Passavant. He completed his residency and medical degree at University of Pittsburgh School of Medicine. Dr. Grob is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Cirrhosis, Xanthoma, Familial Combined Hyperlipidemia, Endoscopy, and Hip Replacement.

      Kurt M. Heil
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      GMA/Northern Area Family Medicine

      5700 Corporate Drive, Suite 700, 
      Pittsburgh, PA 
       (8.0 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Kurt M. Heil, MD specializes and is certified in family medicine by the American Board of Family Medicine. He practices at GMA/Northern Area Family Medicine and is affiliated with UPMC Passavant. He completed his residency at Medical College of Virginia and medical degree at Thomas Jefferson University Medical College. Dr. Heil is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Alzheimer's Disease, High Cholesterol, Infant Hyperglycemia, Apoplexy, and Endoscopy.

      Shannon R. Orr
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Renaissance Family Practice-UPMC

      121 Freeport Road, Suite 100, 
      Blawnox, PA 
       (9.2 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Shannon Orr, DO, is a family physician, certified in family medicine by the American Board of Family Medicine. Dr. Orr received her medical degree from Lake Erie College of Osteopathic Medicine. She completed her residency at UPMC St. Margaret where she served as chief resident.  Dr. Orr’s clinical interests include woman’s health and preventive medicine. She is a member of the American Academy of Family Physicians and Pennsylvania Osteopathic Medical Association. Dr. Orr enjoys running and biking and lives with her husband and two children in Gibsonia, Pa. Dr. Orr is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Hyphema, Carbamoyl Phosphate Synthetase 1 Deficiency, N-Acetylglutamate Synthase Deficiency, and Arginase Deficiency.

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

      Campbell & Philbin Medical Associates

      92 Bradford Avenue, 
      Crafton, PA 
       (5.4 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Terence Philbin is a primary care provider, practicing in Internal Medicine in Crafton, Pennsylvania. Dr. Philbin is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Short Bowel Syndrome, Small Bowel Bacterial Overgrowth, Malnutrition, Gastrostomy, and Cardiac Ablation.

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

      Preferred Primary Care Physicians, Inc.

      2375 Greentree Rd, Fl 2, 
      Carnegie, PA 
       (5.5 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      John Chalfant is a primary care provider, practicing in Family Medicine in Carnegie, Pennsylvania. Dr. Chalfant is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Infant Hyperglycemia, Vitamin D Deficiency, High Cholesterol, and Anemia.

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

      Preferred Primary Care Physicians, Inc.

      2375 Greentree Rd, Fl 2, 
      Carnegie, PA 
       (5.5 miles away)
      Languages Spoken:
      English

      Anthony Iannamorelli is a primary care provider, practicing in Internal Medicine in Carnegie, Pennsylvania. Dr. Iannamorelli is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Monoclonal Gammopathy of Undetermined Significance (MGUS), End-Stage Renal Disease (ESRD), Type 2 Diabetes (T2D), Pacemaker Implantation, and Gastrostomy.

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

      Preferred Primary Care Physicians, Inc.

      2375 Greentree Rd, 
      Carnegie, PA 
       (5.5 miles away)
      Languages Spoken:
      English

      Kenton Hess is a primary care provider, practicing in Family Medicine in Carnegie, Pennsylvania. Dr. Hess is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Magnesium Deficiency, Vitamin D Deficiency, Gitelman Syndrome, and Obesity.

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

      St Clair Medical Services Inc

      1 Robinson Plz, Suite 410, 
      Pittsburgh, PA 
       (8.8 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Lavanya Karri is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. Dr. Karri is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Acute Coronary Syndrome, Carbamoyl Phosphate Synthetase 1 Deficiency, Arginase Deficiency, and N-Acetylglutamate Synthase Deficiency. Dr. Karri is currently accepting new patients.

      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      10 Duff Rd Ste 212, 
      Pittsburgh, PA 
       (9.3 miles away)
      Languages Spoken:
      English

      Emanuel Mamatas is a primary care provider, practicing in Internal Medicine in Pittsburgh, Pennsylvania. Dr. Mamatas is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Inappropriate Sinus Tachycardia (IST), Low Blood Pressure, Hypothyroidism, Endoscopy, and Ureteroscopy.

      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      4284 William Flynn Hwy, Suite 102, 
      Allison Park, PA 
       (9.7 miles away)
      Languages Spoken:
      English

      Ronald Nigborowicz is a primary care provider, practicing in Internal Medicine in Allison Park, Pennsylvania. Dr. Nigborowicz is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Tinnitus, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Hypertension.

      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      2570 Haymaker Rd, 
      Monroeville, PA 
       (13.1 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Palaniappan Muthappan is a primary care provider, practicing in Internal Medicine in Monroeville, Pennsylvania. Dr. Muthappan is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Bile Duct Obstruction, Lung Cancer, Pneumonia, Endoscopy, and Gastrostomy.

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

      Premier Medical Associates PC

      1620 Golden Mile Hwy, Suite 100, 
      Monroeville, PA 
       (14.9 miles away)
      Languages Spoken:
      English
      Offers Telehealth

      Roberta Miller is a primary care provider, practicing in Family Medicine in Monroeville, Pennsylvania. Dr. Miller is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are High Cholesterol, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Hypertension.

      Showing 1-20 of 20

      Last Updated: 10/30/2025

      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 Pittsburgh, PA?

      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 Pittsburgh, PA?

      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 Pittsburgh, PA?

      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 Pittsburgh, PA?

      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 Pittsburgh, PA?

      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 Pittsburgh, PA?

      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 Pittsburgh, PA?

      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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