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    Last Updated: 01/09/2026

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    MediFind found 136 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Pennsylvania, US. Of these, 134 are Experienced and 2 are Advanced.

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    136 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 is a primary care provider, practicing in Family Medicine in Altoona, Pennsylvania. 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 Decorticate Posture.

      Raelynn Forsyth
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics

      Medical Genetics In Lawrenceville

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

      Raelynn Forsyth is a Medical Genetics provider in Pittsburgh, Pennsylvania. 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. Dr. Forsyth is currently accepting new patients.

      Jennifer L. Garner
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      UPMC Primary Care

      1414 9th Avenue, 
      Altoona, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Jennifer Garner is a primary care provider, practicing in Family Medicine in Altoona, Pennsylvania. Dr. 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 Myeloid Leukemia (AML).

      Learn about our expert tiers
      Natale J. Falanga
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Geriatrics | Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Geriatrics | Internal Medicine

      LVPG Family And Internal Medicine-East Stroudsburg

      179 Independence Road, Second Floor, 
      East Stroudsburg, PA 
      Languages Spoken:
      English, Italian, Spanish

      Natale Falanga is a primary care provider, practicing in Internal Medicine and Geriatrics in East Stroudsburg, Pennsylvania. Dr. Falanga is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Maturity Onset Diabetes of the Young.

      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.

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

      Emergency Services At UPMC Susquehanna Williamsport

      700 High Street, 
      Williamsport, PA 
      Languages Spoken:
      English, Mandarin

      Anni Xu is a primary care provider, practicing in Family Medicine in Williamsport, Pennsylvania. Dr. Xu is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Acute Cystitis, Dehydration, Urinary Tract Infection in Children, and Urinary Tract Infection (UTI).

      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 is a primary care provider, practicing in Family Medicine in Blawnox, Pennsylvania. 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, N-Acetylglutamate Synthase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, and Arginase Deficiency. Dr. Orr is currently accepting new patients.

      Eileen P. Simak
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency

      LVPG Geriatric Medicine-17th Street

      1627 Chew St, PO Box 7017, 
      Allentown, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Eileen Simak is a primary care provider, practicing in Geriatrics in Allentown, Pennsylvania. Dr. Simak is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Memory Loss, Cerebellar Degeneration, Hepatocerebral Degeneration, and Cerebellar Multiple System Atrophy.

      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, Familial Hypertension, and 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

      Genesis Medical Associates

      1020 Center Ave, 
      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 Purpura, Gardner-Diamond Syndrome, Autoerythrocyte Sensitivity, 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, Carbamoyl Phosphate Synthetase 1 Deficiency, N-Acetylglutamate Synthase Deficiency, and Arginase 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 is a primary care provider, practicing in Internal Medicine in Wilkinsburg, Pennsylvania. 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 is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. 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 Heil is a primary care provider, practicing in Family Medicine in Pittsburgh, Pennsylvania. 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.

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

      TeamHealth Hospitalists

      206 E Brown Street, 
      East Stroudsburg, PA 
      Languages Spoken:
      English, Russian

      Natalya Gazizov is a primary care provider, practicing in Internal Medicine in East Stroudsburg, Pennsylvania. Dr. Gazizov is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Sepsis, Pneumonia, Hospital-Acquired Pneumonia, Hip Replacement, and Endoscopy.

      Robert D. Sullivan
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      UPMC Primary Care

      1414 9th Avenue, 
      Altoona, PA 
      Languages Spoken:
      English
      Offers Telehealth

      Robert Sullivan is a primary care provider, practicing in Internal Medicine in Altoona, Pennsylvania. Dr. Sullivan is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Peripheral Artery Disease, Lyme Disease, Osteomyelitis, Osteomyelitis in Children, and Hemorrhoidectomy.

      Janet E. Erickson
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Internal Medicine

      LVPG Internal Medicine-Steamtown

      300 Lackawanna Avenue, Suite 200, 
      Scranton, PA 
      Languages Spoken:
      English

      Philosophy of care | I strongly believe in patient-centered care that involves the entire health care team and assesses all facets of well-being, including the physical, psychological, emotional and social aspects. I listen carefully to your unique story as a way to achieve your best medical outcome. | Why I entered medicine | At age 10, I observed my father’s physical decline following a critical cardiac event at age 40. I recognized the need for research into novel and promising treatments, and the vital importance of patients and family members establishing a trusting relationship with their medical team. At a time of profound fear and uncertainty for both my father and his family, I learned the significance of compassionate and empathic care, and I strive to provide this to my own patients in memory of him. | Community involvement | I have helped educate medical, physician assistant and nurse practitioner students and found it to be extremely rewarding. I served as a medical school faculty member for 12 years, and have been involved in community outreach and education through local schools and businesses regarding a variety of medical topics and health-promoting campaigns. I have served as a board member for Easter Seals and for a variety of organizations involved in the education of autistic children. I have supported and donated time to homeless shelters and worked with members of domestic abuse. I support animal shelters, and I have personally adopted numerous special needs animals. | Personal interests | My personal interests include working with animal shelters and emergency facilities to assist in fostering/adoption of special needs animals. I like personal fitness, including distance running and indoor cycling. I enjoy community and school-based activities with my twin daughters, and am interested in Victorian-era architecture and collectibles. Dr. Erickson 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, Melorheostosis, and Melorheostosis with Osteopoikilosis.

      Manish K. Mishra
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Integrated Medical Group, PC

      700 Schuylkill Manor Road, Suite 5A, 
      Pottsville, PA 
      Languages Spoken:
      English, Hindi

      Manish Mishra is a primary care provider, practicing in Family Medicine in Pottsville, Pennsylvania. Dr. Mishra is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Viral Gastroenteritis, Colitis, Lung Metastases, Gastrostomy, and Endoscopy.

      Philip M. Cacchione
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      UPMC Primary Care

      3535 Pine Avenue, 
      Erie, PA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Philip Cacchione is a primary care provider, practicing in Family Medicine in Erie, Pennsylvania. Dr. Cacchione is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Cerebral Palsy, Spastic Paraplegia Type 2, Spastic Paraplegia Type 11, and Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome. Dr. Cacchione is currently accepting new patients.

      Showing 1-20 of 136

      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 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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