The 20 Best Carbamoyl Phosphate Synthetase 1 Deficiency Doctors Near Me in Pennsylvania, US

Find the Top Carbamoyl Phosphate Synthetase 1 Deficiency Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 133 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Pennsylvania, US. Of these, 130 are Experienced and 3 are Advanced.

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133 providers found
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Geriatrics | Internal Medicine
    Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Geriatrics | Internal Medicine

    Suburban Geriatrics Inc

    2901 Jolly Road, 
    Plymouth Meeting, PA 
    Languages Spoken:
    English

    . 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.

    Zoya N. Khawaja
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine

    Pottstown Hospital

    1600 East High Street, 
    Pottstown, PA 
    Languages Spoken:
    English

    . Dr. Khawaja is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Sepsis, Leukemoid Reaction, Hypothermia, and Hospital-Acquired Pneumonia.

    Jacek Z. Obara
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Family Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Family Medicine

    Pottstown Hospital

    1600 East High Street, 
    Pottstown, PA 
    Languages Spoken:
    English

    . Dr. Obara is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Cellulitis, Maturity Onset Diabetes of the Young, Hypertension, and Familial Hypertension.

    Learn about our expert tiers
    Om Parkash
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Internal Medicine

    Reading Hospital

    420 South 5th Avenue, 
    West Reading, PA 
    Languages Spoken:
    English, Hindi, Punjabi, Sindhi, Urdu

    . Dr. Parkash is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Malnutrition, Leprosy, Gastrointestinal Bleeding, Endoscopy, and Stent Placement.

    Brian D. Mccauley
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Cardiology | Internal Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Cardiology | Internal Medicine

    Reading Hospital Cardiology - West Reading

    301 S 7th Ave, Ste 2020, 
    West Reading, PA 
    Languages Spoken:
    English
    Offers Telehealth

    . Dr. Mccauley is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Heart Attack, Cardiogenic Shock, Cardiac Arrest, and Atherosclerosis.

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

    Reading Hospital

    420 South 5th Avenue, 
    West Reading, PA 
    Languages Spoken:
    English, Russian, Ukrainian

    . Dr. Syritsa 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, Gitelman Syndrome, Heart Failure with Preserved Ejection Fraction (HFpEF), and Heart Failure.

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

    Suburban Geriatrics Inc

    2901 Jolly Road, 
    Plymouth Meeting, PA 
    Languages Spoken:
    English

    . Dr. Graf is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Dementia, Anemia, Necrosis, Gastrostomy, and Endoscopy.

    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 
    Experience:
    10+ years
    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 Ornithine Transcarbamylase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, Urea Cycle Disorders (UCD), and Mitochondrial Trifunctional Protein 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 
    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.

    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
    Offers Telehealth

    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 Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Maturity Onset Diabetes of the Young.

    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.

    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.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Pediatric Cardiology
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Pediatric Cardiology

    Pediatric Cardiology And Other Medical Consultations, LLC

    1890 North Juniata Street, 
    Hollidaysburg, PA 
    Languages Spoken:
    English, Creole, French, Haitian

    Roland Crevecoeur is a primary care provider, practicing in Pediatric Cardiologist in Hollidaysburg, Pennsylvania. Dr. Crevecoeur is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Epilepsy, Urinary Tract Infection in Children, Urinary Tract Infection (UTI), and Memory Loss.

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

    Pittston Medical Associates LTD.

    1099 S Township Blvd, 
    Pittston, PA 
    Languages Spoken:
    English

    Joseph Radzwilka is a primary care provider, practicing in Family Medicine in Pittston, Pennsylvania. Dr. Radzwilka is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Glossitis, Pernicious Anemia, 3M Syndrome, Endoscopy, and Pacemaker Implantation.

    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    General Practice
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    General Practice

    Guy M Fasciana MD

    605 Main St, 
    Duryea, PA 
    Languages Spoken:
    English

    Charles Manganiello is a primary care provider, practicing in General Practice in Duryea, Pennsylvania. Dr. Manganiello is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Subacute Combined Degeneration, Glossitis, Pernicious Anemia, Gastrostomy, and Endoscopy.

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

    Ryan W Cowburn OD

    2121 Shelly Dr, 
    Indiana, PA 
    Languages Spoken:
    English

    Jamil Ahmed is a primary care provider, practicing in Legal Medicine in Indiana, Pennsylvania. Dr. Ahmed is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are End-Stage Renal Disease (ESRD), Maturity Onset Diabetes of the Young, Pneumonia, Colonoscopy, and Endoscopy.

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

    Office

    33 Beaver Dr Ste 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 Familial Hypertension.

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

    Primary Care Associates Of Butler PC

    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 Sialic Acid Storage Disease, PMM2-Congenital Disorder of Glycosylation, Phosphomannoisomerase Deficiency, and Sialuria.

    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 Murnyack Garner, DO, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Blair Medical Associates, Family Practice and is affiliated with UPMC Altoona. She completed her residency at UPMC Altoona and medical degree at Philadelphia College of Osteopathic Medicine. 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, Acute Myeloblastic Leukemia without Maturation, and Acute Myeloid Leukemia (AML).

    Brian B. Kimmel
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Family Medicine
    Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
    Family Medicine

    Medical Associates Of Bridesburg

    4517 E Thompson St, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Brian Kimmel is a primary care provider, practicing in Family Medicine in Philadelphia, Pennsylvania. Dr. Kimmel is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Type 2 Diabetes (T2D), Swallowing Difficulty, Painful Swallowing, and Hypertension.

    Showing 1-20 of 133

    Last Updated: 04/28/2026

    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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