The 20 Best Phenylketonuria (PKU) Doctors Near Me in District of Columbia, US

Find the Top Phenylketonuria (PKU) Experts and Specialists

Last Updated: 06/30/2026

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MediFind found 5 doctor with experience in Phenylketonuria (PKU) near District of Columbia, US. Of these, 3 are Experienced and 2 are Advanced.

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5 providers found
    Advanced in Phenylketonuria (PKU)
    Advanced in Phenylketonuria (PKU)
    Referral may be required

    Rare Disease Institute

    7125 13th Place Northwest, 
    Washington, DC 
    Experience:
    24+ years
    Languages Spoken:
    English, French
    Offers Telehealth

    Nicholas Ah Mew, MD, is director of the Inherited Metabolic Disorders Program at Children’s National Hospital and is associate professor of Pediatrics at The George Washington University. He is a clinical geneticist and clinical biochemical geneticist whose primary research interests include urea cycle disorders, organic acidemias, and other disorders of ammonia metabolism. He is the principal investigator or co-PI of several projects funded through the National Institutes of Health and Patient-Centered Outcomes Research Institute. Dr. Ah Mew is the Children’s National site-PI and an active member of the NIH-funded Urea Cycle Disorders Consortium (UCDC). He has authored multiple publications and book chapters on hyperammonemia and urea cycle disorders and has lectured internationally on these topics. Dr. Mew is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Maple Syrup Urine Disease, Argininosuccinic Aciduria, and Propionic Acidemia. Dr. Mew is board certified in American Board Of Medical Genetics And Genomics, 2020 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 2011.

    Advanced in Phenylketonuria (PKU)
    Pediatrics
    Advanced in Phenylketonuria (PKU)
    Pediatrics
    Referral may be required

    Children's National Hospital

    111 Michigan Ave NW, 
    Washington, DC 
    Experience:
    17+ years
    Languages Spoken:
    English

    Debra Regier is a Pediatrics provider practicing medicine in Washington, Washington, D.c.. She has been practicing medicine for over 17 years. Dr. Regier is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Gangliosidosis, GM1 Gangliosidosis, Cantu Syndrome, and Maple Syrup Urine Disease.

    Experienced in Phenylketonuria (PKU)
    Experienced in Phenylketonuria (PKU)
    Referral may be required

    Main Hospital-Genetics Clinic

    111 Michigan Avenue Northwest, 
    Washington, DC 
    Experience:
    14+ years
    Languages Spoken:
    English
    Offers Telehealth

    Christina Grant, MD, PhD, completed her medical genetics and medical biochemical genetics training at the National Institutes of Health National Human Genome Research Institute in Bethesda, MD, and joined Children’s National Hospital in 2018. Her clinical and research interests focus on large molecule storage disorders especially lysosomal storage diseases. Dr. Grant is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome). Dr. Grant is board certified in Medical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 2019, American Board Of Medical Genetics And Genomics, 2017, and Pediatrics: American Board Of Pediatrics, 2015.

    Learn about our expert tiers
    Experienced in Phenylketonuria (PKU)
    Experienced in Phenylketonuria (PKU)
    Referral may be required

    Rare Disease Institute

    7125 13th Place Northwest, 
    Washington, DC 
    Experience:
    22+ years
    Languages Spoken:
    English, Spanish
    Offers Telehealth

    Eyby Leon Janampa, MD, graduated from medical school in Lima-Peru in 2005. She finished her medical genetics training at the University of Utah in 2011 and joined Children’s National Hospital the same year. Her clinical interests include disorders of sexual differentiation and dysmorphic syndromes, and she has published extensively on improving clinical descriptions of rare and new genetic conditions. She is one of the founding members of the Rare Disease Institute at Children’s National and teaches medical students on topics related to rare disease diagnosis and care. Dr. Leon advocates for a multidisciplinary approach to common genetic syndromes and is a founding member of various multidisciplinary clinic teams at Children’s National. Dr. Janampa is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her clinical expertise encompasses Turner Syndrome, Mixed Gonadal Dysgenesis, Maple Syrup Urine Disease, and Klinefelter Syndrome. Dr. Janampa is board certified in American Board Of Medical Genetics And Genomics, 2024, Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 2024, and American Board Of Medical Genetics And Genomics, 2013.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required
    111 Michigan Ave Nw, Children's National Medical Center, 
    Washington, DC 
    Languages Spoken:
    English

    Kimberly Chapman is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Washington, Washington, D.c.. Dr. Chapman is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her clinical expertise encompasses Ehlers-Danlos Syndrome (EDS), Brittle Cornea Syndrome, Methylmalonic Acidemia, and Mitochondrial Trifunctional Protein Deficiency.

    Showing 1-5 of 5

    Last Updated: 06/30/2026

    What is the definition of Phenylketonuria (PKU)?

    Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.

    When should I see a Phenylketonuria (PKU) doctor in District of Columbia, 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 Phenylketonuria (PKU) doctor in District of Columbia, 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 Phenylketonuria (PKU) doctors in District of Columbia, 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 Phenylketonuria (PKU) doctors in District of Columbia, 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 Phenylketonuria (PKU) doctor in District of Columbia, 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 Phenylketonuria (PKU) doctor search results page. 

    Why is it important to get a second opinion from a different Phenylketonuria (PKU) 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 Phenylketonuria (PKU) doctor in District of Columbia, 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 Phenylketonuria (PKU) 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 Phenylketonuria (PKU) 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 Phenylketonuria (PKU) doctors in District of Columbia, US?

    Look for the filter feature on the left side of the Phenylketonuria (PKU) 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 Phenylketonuria (PKU) doctor that offers video calls?

    Look for the filter feature on the left-side of the Phenylketonuria (PKU) 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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