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    Last Updated: 01/09/2026

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    MediFind found 15 doctor with experience in Carbamoyl Phosphate Synthetase 1 Deficiency near Baltimore, MD. Of these, 14 are Experienced and 1 are Advanced.

    Location
    LocationClose
    15 providers found
      Ada Hamosh
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatrics
      Advanced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics | Pediatrics

      Rubenstein Child Health Building

      200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
      Baltimore, MD 
       (0.1 miles away)
      Languages Spoken:
      English

      Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as an Advanced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

      Hilary J. Vernon
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics

      Rubenstein Child Health Building

      Baltimore, MD 
       (0.1 miles away)
      Languages Spoken:
      English, Spanish

      Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.

      David Valle
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Medical Genetics

      The Johns Hopkins Hospital

      Baltimore, MD 
       (1.0 miles away)
      Languages Spoken:
      English

      Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita.

      Learn about our expert tiers
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine

      Medstar Medical Group Ii LLC

      5601 Loch Raven Blvd, 
      Baltimore, MD 
       (4.9 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Thea Manlapaz is a primary care provider, practicing in Family Medicine in Baltimore, Maryland. Dr. Manlapaz is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are End-Stage Renal Disease (ESRD), Hypertension, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Manlapaz is currently accepting new patients.

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

      Mdics At Umroi, LLC

      2200 Kernan Dr, 
      Gwynn Oak, MD 
       (5.5 miles away)
      Languages Spoken:
      English, Hindi, Punjabi, Spanish, Urdu
      Accepting New Patients

      Harshinder Sidhu is a primary care provider, practicing in Internal Medicine in Gwynn Oak, Maryland. Dr. Sidhu is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Hospital-Acquired Pneumonia, Atypical Pneumonia, Pneumonia, Gastrostomy, and Colonoscopy. Dr. Sidhu is currently accepting new patients.

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

      Ravi Passi MD PC

      848 S Rolling Hills Rd, Advanced Primary And Geriatr, 
      Cantonsville, MD 
       (6.8 miles away)
      Languages Spoken:
      English, Hindi
      Accepting New Patients

      Ravi Passi is a primary care provider, practicing in Internal Medicine in Cantonsville, Maryland. Dr. Passi 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, Hypertension, and Familial Hypertension. Dr. Passi is currently accepting new patients.

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

      Greater Baltimore Medical Center Inc

      6701 N Charles St, 
      Baltimore, MD 
       (7.0 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Charles Mugera is a primary care provider, practicing in Internal Medicine in Baltimore, Maryland. Dr. Mugera is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Chronic Kidney Disease, Pneumonia, Hospital-Acquired Pneumonia, Gastrostomy, and Endoscopy. Dr. Mugera is currently accepting new patients.

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

      Maryland Medical First PA

      8901 Clement Ave, 
      Parkville, MD 
       (8.3 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Fei Zhao is a primary care provider, practicing in Internal Medicine in Parkville, Maryland. Dr. Zhao is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Deep Vein Thrombosis, Dementia, Epilepsy, and Hypertension. Dr. Zhao is currently accepting new patients.

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

      Maryland Medical First PA

      8901 Clement Ave, 
      Parkville, MD 
       (8.3 miles away)
      Experience:
      10+ years
      Languages Spoken:
      English

      Joanna Jacob is a primary care provider, practicing in Family Medicine in Parkville, Maryland. Dr. Jacob has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are Dementia, Protein Deficiency, Pericarditis, and Sialic Acid Storage Disease.

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

      Maryland Medical First PA

      8901 Clement Ave, 
      Parkville, MD 
       (8.3 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Aye Mon is a primary care provider, practicing in Internal Medicine in Parkville, Maryland. Dr. Mon is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. Her top areas of expertise are COVID-19, Dementia, Protein Deficiency, and Pericarditis. Dr. Mon is currently accepting new patients.

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

      Northwest Hospital Center Inc

      5401 Old Court Rd, 
      Randallstown, MD 
       (10.3 miles away)
      Languages Spoken:
      English

      Ramaswamy Rangarajan is a primary care provider, practicing in Internal Medicine in Randallstown, Maryland. Dr. Rangarajan is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Dehydration, Gastrostomy, and Colonoscopy.

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

      Kaiser Foundation Health Plan Of The Mid Atlantic States, Inc

      2391 Greenspring Dr, 
      Timonium, MD 
       (10.4 miles away)
      Languages Spoken:
      English

      Qinglin Gao is a primary care provider, practicing in Internal Medicine in Timonium, Maryland. Dr. Gao is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Pleurisy, Atypical Pneumonia, Hospital-Acquired Pneumonia, Endoscopy, and Gastrostomy.

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

      University Of Maryland Community Medical Group Inc

      313 Hospital Dr, 
      Glen Burnie, MD 
       (10.5 miles away)
      Languages Spoken:
      English, Urdu
      Accepting New Patients
      Offers Telehealth

      Muhammad Naeem is a primary care provider, practicing in Internal Medicine in Glen Burnie, Maryland. Dr. Naeem is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Anemia, Hypothyroidism, Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Naeem is currently accepting new patients.

      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine | General Practice
      Experienced in Carbamoyl Phosphate Synthetase 1 Deficiency
      Family Medicine | General Practice
      4155 Glen Park Rd, 
      Nottingham, MD 
       (11.6 miles away)
      Languages Spoken:
      English, Cebuano, Filipino
      Accepting New Patients

      Greg Tampus is a primary care provider, practicing in Family Medicine and General Practice in Nottingham, Maryland. Dr. Tampus is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Decorticate Posture, Decerebrate Posture, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Tampus is currently accepting new patients.

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

      Healthdrive Medical Services PC

      6700 Alexander Bell Dr, Suite 200, 
      Columbia, MD 
       (12.9 miles away)
      Languages Spoken:
      English

      Javier Quant-Gonzalez is a primary care provider, practicing in Internal Medicine in Columbia, Maryland. Dr. Quant-Gonzalez is rated as an Experienced provider by MediFind in the treatment of Carbamoyl Phosphate Synthetase 1 Deficiency. His top areas of expertise are Cellulitis, Hypothyroidism, Obesity in Children, and Dementia.

      Showing 1-15 of 15

      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 near Baltimore, MD?

      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 Baltimore, MD?

      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 Baltimore, MD?

      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 Baltimore, MD?

      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 Baltimore, MD?

      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 Baltimore, MD?

      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 Baltimore, MD?

      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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