The 20 Best Phenylketonuria (PKU) Doctors Near Me in Washington, DC

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 Washington, DC. 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.

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