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    Last Updated: 10/30/2025

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    MediFind found 137 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Pennsylvania, US. Of these, 134 are Experienced and 3 are Advanced.

    Location
    LocationClose
    137 providers found
      Brett L. Scharf
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      UPMC Primary Care

      1400 9th Avenue, 
      Altoona, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Brett Scharf, DO, specializes in family medicine. He practices at Mainline Medical Associates and is affiliated with UPMC Altoona. He completed his residency at Altoona Hospital and medical degree at New York College of Osteopathic Medicine of New York Institute of Technology. Dr. Scharf is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Alzheimer's Disease, Necrotizing Myopathy (NM), Parkinson's Disease, and Decerebrate Posture.

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

      Suburban Geriatrics Ii PC

      2901 Jolly Rd, 
      Plymouth Meeting, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Robert Pearlstein is a primary care provider, practicing in Geriatrics and Internal Medicine in Plymouth Meeting, Pennsylvania. Dr. Pearlstein is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Dementia, Alzheimer's Disease, Painful Swallowing, Gastrostomy, and Endoscopy.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Clearfield-Jefferson Primary Care Associates PC

      33 Beaver Dr, Suite 1, 
      Du Bois, PA 
      Languages Spoken:
      English

      Brandon Roscoe is a primary care provider, practicing in Family Medicine in Du Bois, Pennsylvania. Dr. Roscoe is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Alzheimer's Disease, Dementia, Type 2 Diabetes (T2D), and Glucocorticoid-Remediable Aldosteronism.

      Learn about our expert tiers
      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 
      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.

      William C. Dicuccio
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Genesis Medical Associates, Inc.

      480 E Jefferson St, 
      Butler, PA 
      Languages Spoken:
      English
      Offers Telehealth

      William Dicuccio is a primary care provider, practicing in Family Medicine in Butler, Pennsylvania. Dr. Dicuccio is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Phosphomannoisomerase Deficiency, Sialuria, PMM2-Congenital Disorder of Glycosylation, and Sialic Acid Storage Disease.

      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 
      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.

      Harry S. Sahi
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      Internists Of Central PA

      108 Lowther Street, 
      Lemoyne, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Harry Sahi is a primary care provider, practicing in Internal Medicine in Lemoyne, Pennsylvania. Dr. Sahi is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Hypothyroidism, Obesity in Children, Gerstmann Syndrome, and Dysgraphia.

      Stephen E. Sargent
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Geriatrics | Pediatrics | Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Geriatrics | Pediatrics | Internal Medicine

      Genesis Medical Associates, Inc.

      480 E Jefferson St, 
      Butler, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Stephen Sargent is a primary care provider, practicing in Geriatrics and Internal Medicine in Butler, Pennsylvania. Dr. Sargent is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Osmotic Diuresis, Breast Cancer, Type 2 Diabetes (T2D), and Hypolipoproteinemia.

      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 
      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.

      Michael R. Trotta
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Pediatrics | Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Pediatrics | Internal Medicine

      Genesis Medical Associates, Inc.

      480 E Jefferson St, 
      Butler, PA 
      Languages Spoken:
      English

      Michael Trotta is a primary care provider, practicing in Pediatrics and Internal Medicine in Butler, Pennsylvania. Dr. Trotta 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, High Cholesterol, Vitamin D Deficiency, and Severe Fever with Thrombocytopenia Syndrome.

      Pravinchandra G. Chapla
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      UPMC Lock Haven Hospitalist Service

      24 Cree Drive, 
      Lock Haven, PA 
      Languages Spoken:
      English, Hindi
      Accepting New Patients
      Offers Telehealth

      Pravinchandra Chapla is a primary care provider, practicing in Internal Medicine in Lock Haven, Pennsylvania. Dr. Chapla 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, Cirrhosis, Hypertension, and Familial Hypertension. Dr. Chapla is currently accepting new patients.

      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 
      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.

      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 
      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.

      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 
      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 
      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.

      Michael A. Pedone
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      UPMC Primary Care

      1400 9th Avenue, 
      Altoona, PA 
      Languages Spoken:
      English, Mandarin
      Accepting New Patients
      Offers Telehealth

      Michael Pedone, DO, is certified in family medicine/omt by the American Osteopathic Board of Family Physicians. He practices at Mainline Medical Associates and is affiliated with UPMC Altoona. He completed his residency at Altoona Hospital and medical degree at Lake Erie College of Osteopathic Medicine. Dr. Pedone is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Silicosis, Moebius Syndrome, Cerebral Palsy, and Sciatica.

      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 
      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.

      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatrics | Developmental and Behavioral Pediatrics
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatrics | Developmental and Behavioral Pediatrics
      3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Metabolism, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Marc Yudkoff is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Yudkoff 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), N-Acetylglutamate Synthase Deficiency, Ornithine Translocase Deficiency, and Maple Syrup Urine Disease.

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

      Upmc Altoona Regional Health Services, Inc.

      149 Delville Dr, Blair Medical Assocs, 
      Duncansville, PA 
      Languages Spoken:
      English

      Jennifer Murnyack-Garner is a primary care provider, practicing in Family Medicine in Duncansville, Pennsylvania. Dr. Murnyack-Garner is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Postmenopausal Osteoporosis, Osteoporosis, Pediatric Myocarditis, and Acute Myeloblastic Leukemia with Maturation.

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

      Geisinger Clinic

      100 N Academy Ave, 
      Danville, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Matthew Haley is a primary care provider, practicing in Family Medicine in Danville, Pennsylvania. Dr. Haley is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Maturity Onset Diabetes of the Young, Lung Metastases, Familial Hypertension, and Hypertension.

      Showing 1-20 of 137

      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 in Pennsylvania, US?

      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 in Pennsylvania, US?

      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 in Pennsylvania, US?

      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 in Pennsylvania, US?

      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 in Pennsylvania, US?

      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 in Pennsylvania, US?

      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 in Pennsylvania, US?

      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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