The 20 Best Phenylketonuria (PKU) Doctors in The United States

Find the Top Phenylketonuria (PKU) Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 597 doctor with experience in Phenylketonuria (PKU) near The United States. Of these, 440 are Experienced, 119 are Advanced, 26 are Distinguished and 12 are Elite.

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597 providers found
    Elite in Phenylketonuria (PKU)
    Pediatrics | Medical Genetics
    Elite in Phenylketonuria (PKU)
    Pediatrics | Medical Genetics
    Referral may be required

    M Health Fairview Explorer Pediatric Specialty Clinic

    12th Flr, East Bld 2450 Riverside Ave, 
    Minneapolis, MN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required

    University Professional Services

    707 Sw Gaines St, 
    Portland, OR 
    Languages Spoken:
    English
    Accepting New Patients

    Cary Harding is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Portland, Oregon. Dr. Harding is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Urea Cycle Disorders (UCD), Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, and Hepatectomy. Dr. Harding is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required
    2300 Childrens Plaza, 
    Chicago, IL 
    Languages Spoken:
    English

    Barbara Burton is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Chicago, Illinois. Dr. Burton is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 23 other conditions, according to our data. Her clinical expertise encompasses Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Phenylketonuria (PKU), Mucopolysaccharidoses (MPS), and Cholesteryl Ester Storage Disease.

    Learn about our expert tiers
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required

    University Physicians Incorporated

    13123 E 16th Ave, 
    Aurora, CO 
    Languages Spoken:
    English, French
    Accepting New Patients

    Janet Thomas is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Aurora, Colorado. Dr. Thomas is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Homocystinuria, Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Thomas is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics
    Elite in Phenylketonuria (PKU)
    Medical Genetics
    Referral may be required
    1600 Sw Archer Rd, 
    Gainesville, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Roberto Zori is a Medical Genetics provider practicing medicine in Gainesville, Florida. Dr. Zori is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Arginase Deficiency, Urea Cycle Disorders (UCD), and Propionic Acidemia. Dr. Zori is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required
    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Harvey Levy is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Levy is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Homocystinuria, Maternal Hyperphenylalaninemia, and Classic Galactosemia. Dr. Levy is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sacharow is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 159 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

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

    University Medical Service Association Inc

    17 Davis Blvd, 
    Tampa, FL 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Amarilis Sanchez-Valle is a Medical Genetics provider practicing medicine in Tampa, Florida. Dr. Sanchez-Valle is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Early Infantile Epileptic Encephalopathy, Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia. Dr. Sanchez-Valle is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required

    Iu Health Medical Group Riley Specialists LLC

    705 Riley Hospital Dr, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients

    Melissa Lah is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Indianapolis, Indiana. Dr. Lah is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 133 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Prader-Willi Syndrome, Maternal Hyperphenylalaninemia, and Miller-Dieker Syndrome. Dr. Lah is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required

    Washington University

    1 Childrens Pl, 
    Saint Louis, MO 
    Languages Spoken:
    English
    Accepting New Patients

    Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Saint Louis, Missouri. Dr. Grange is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Grange is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required

    Valley Childrens Medical Group

    1524 Mchenry Ave, 
    Modesto, CA 
    Languages Spoken:
    English
    Accepting New Patients

    David Dimmock is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Modesto, California. Dr. Dimmock is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Increased Head Circumference, Micrognathia, and Maternal Hyperphenylalaninemia. Dr. Dimmock is currently accepting new patients.

    Distinguished in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Distinguished in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Referral may be required

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Georgianne Arnold is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Arnold is rated as a Distinguished 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 Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Inborn Amino Acid Metabolism Disorder. Dr. Arnold is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

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

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Tarachandra Narumanchi is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics. Dr. Narumanchi is currently accepting new patients.

    Advanced in Phenylketonuria (PKU)
    Medical Genetics
    Advanced in Phenylketonuria (PKU)
    Medical Genetics
    Referral may be required

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Anthony Perszyk is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics. Dr. Perszyk is currently accepting new patients.

    Advanced in Phenylketonuria (PKU)
    Advanced in Phenylketonuria (PKU)
    Referral required

    ETSU Physicians & Associates- Pediatrics

    325 N State Of Franklin Rd, 
    Johnson City, TN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Ulnar-Mammary Syndrome, and Microcephaly. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics. Dr. Russi is currently accepting new patients.

    Experienced in Phenylketonuria (PKU)
    Internal Medicine
    Experienced in Phenylketonuria (PKU)
    Internal Medicine

    Texas Health Executive Direct

    Allen, TX 
    Languages Spoken:
    English, Mandarin, Spanish

    Luke Ouyang is a primary care provider, practicing in Internal Medicine in Allen, Texas. Dr. Ouyang is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Infant Hyperglycemia, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma.

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

    St. Christopher's Pediatric Associates Specials Needs - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Francis Mcnesby is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Mcnesby is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Autism Spectrum Disorder, Microcephaly, Delayed Growth, and HNRNPH2-Related Disorder. Dr. Mcnesby is board certified in American Board Of Pediatrics.

    Experienced in Phenylketonuria (PKU)
    Experienced in Phenylketonuria (PKU)

    OSF HealthCare Saint Elizabeth - OP Wound Care

    1209 Starfire Drive Suite E, 
    Ottawa, IL 
    Languages Spoken:
    English, French, Romanian
    Accepting New Patients

    Adriana Dumitrescu is a primary care provider, practicing in Family Medicine in Ottawa, Illinois. Dr. Dumitrescu is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Low Sodium Level, Familial Pancreatic Cancer, Lung Cancer, and Familial Hypertension. Dr. Dumitrescu is board certified in American Board Of Family Medicine. Dr. Dumitrescu is currently accepting new patients.

    Experienced in Phenylketonuria (PKU)
    Family Medicine
    Experienced in Phenylketonuria (PKU)
    Family Medicine

    Bassett Health Center Andes

    245 Lower Main Street, 
    Andes, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Susan Fiore is a primary care provider, practicing in Family Medicine in Andes, New York. Dr. Fiore 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 Juvenile Primary Osteoporosis, Maturity Onset Diabetes of the Young, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Craniectomy.

    Experienced in Phenylketonuria (PKU)
    Family Medicine
    Experienced in Phenylketonuria (PKU)
    Family Medicine

    Advocate Medical Group Primary Care

    979 W Main St, Ste 201, 
    West Dundee, IL 
    Languages Spoken:
    English, Spanish, Urdu
    Accepting New Patients
    Offers Telehealth

    Syed Abbas is a primary care provider, practicing in Family Medicine in West Dundee, Illinois. Dr. Abbas is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His clinical expertise encompasses Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Osmotic Diuresis, and Hypertension. Dr. Abbas is board certified in American Board Of Family Medicine. Dr. Abbas is currently accepting new patients.

    Showing 1-20 of 597

    Last Updated: 11/08/2026

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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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