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

Find the Top Phenylketonuria (PKU) Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 569 doctor with experience in Phenylketonuria (PKU) near The United States. Of these, 419 are Experienced, 111 are Advanced, 26 are Distinguished and 12 are Elite.

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569 providers found
    Elite in Phenylketonuria (PKU)
    Elite in Phenylketonuria (PKU)

    Neurobehavior H.O.M.E. Program

    240 Morris Avenue, Suite 400, 
    South Salt Lake, UT 
    Experience:
    28+ years
    Languages Spoken:
    English
    Offers Telehealth

    Deborah Bilder is a Psychiatrist practicing medicine in South Salt Lake, Utah. She has been practicing medicine for over 28 years. Dr. Bilder is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Autism Spectrum Disorder, West Syndrome, and X-Linked Creatine Deficiency. Dr. Bilder is board certified in American Board Of Psychiatry And Neurology and American Board Of Psychiatry And Neurology.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics

    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 16 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
    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 24 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
    Elite in Phenylketonuria (PKU)
    Medical Genetics
    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 Early Infantile Epileptic Encephalopathy. Dr. Zori is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    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 7 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

    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 158 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)

    University Medical Service Association Inc

    800 6th S St, 
    Saint Petersburg, FL 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Amarilis Sanchez-Valle is a Medical Genetics provider practicing medicine in Saint Petersburg, 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

    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

    University Physicians Incorporated

    13123 E 16th Ave, 
    Aurora, CO 
    Languages Spoken:
    English

    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), Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Tyrosinemia Type 1.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    9300 Valley Childrens Pl, 
    Madera, CA 
    Languages Spoken:
    English
    Accepting New Patients

    David Dimmock is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Madera, 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 Dihydropteridine Reductase Deficiency. Dr. Dimmock is currently accepting new patients.

    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Elite in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics

    Iu Health Medical Group LLC

    1701 N Senate Blvd, 
    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 132 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)
    Pediatrics | Medical Genetics
    Elite in Phenylketonuria (PKU)
    Pediatrics | Medical Genetics

    Fairview Express Care

    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 currently accepting new patients.

    Distinguished in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Distinguished in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics

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

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

    . Dr. Arnold is rated as a Distinguished 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), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 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)

    ETSU Physicians & Associates- Pediatrics

    325 N State Of Franklin Rd, 
    Johnson City, TN 
    Languages Spoken:
    English

    . Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

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

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

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

    . Dr. Melvin 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 Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), West Syndrome, and Seizures. Dr. Melvin is board certified in American Board Of Psychiatry And Neurology.

    Distinguished in Phenylketonuria (PKU)
    Medical Genetics
    Distinguished in Phenylketonuria (PKU)
    Medical Genetics

    Darius Adams, MD

    101 Madison Avenue, Suite 201, 
    Morristown, NJ 
    Languages Spoken:
    English
    Accepting New Patients

    Darius Adams is a Medical Genetics provider practicing medicine in Morristown, New Jersey. Dr. Adams is rated as a Distinguished 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 Phenylketonuria (PKU), Glycogen Storage Disease Type 3, Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Adams is board certified in American Board Of Medical Genetics And Genomics. Dr. Adams is currently accepting new patients.

    Distinguished in Phenylketonuria (PKU)
    Distinguished in Phenylketonuria (PKU)

    The Children's Hospital At Montefiore

    3415 Bainbridge Avenue, 
    Bronx, NY 
    Languages Spoken:
    English

    Melissa Wasserstein is a Pediatrics provider practicing medicine in Bronx, New York. Dr. Wasserstein 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 Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Reticulohistiocytoma, and Splenomegaly.

    Experienced in Phenylketonuria (PKU)
    Pediatric Surgery
    Experienced in Phenylketonuria (PKU)
    Pediatric Surgery

    ETSU Physicians & Associates- Pediatric Surgery

    325 N State Of Franklin Rd, 
    Johnson City, TN 
    Languages Spoken:
    English

    . Dr. Lillegard is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Myelomeningocele, Liver Failure, Infantile Pyloric Stenosis, and Phenylketonuria (PKU). Dr. Lillegard is board certified in American Board Of Surgery.

    Distinguished in Phenylketonuria (PKU)
    Internal Medicine | Endocrinology
    Distinguished in Phenylketonuria (PKU)
    Internal Medicine | Endocrinology

    UT Southwestern - Internal Medicine Subspecialties

    2001 Inwood Rd, 8th Fl, 
    Dallas, TX 
    Languages Spoken:
    English
    Offers Telehealth

    Markey Mcnutt is an Internal Medicine specialist and an Endocrinologist practicing medicine in Dallas, Texas. Dr. Mcnutt is rated as a Distinguished provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 122 other conditions, according to our data. His clinical expertise encompasses Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Phenylketonuria (PKU), and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

    Distinguished in Phenylketonuria (PKU)
    Distinguished in Phenylketonuria (PKU)

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    Amy Kritzer is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Kritzer is rated as a Distinguished provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Kritzer is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics And Genomics.

    Showing 1-20 of 569

    Last Updated: 04/28/2026

    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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