The 20 Best Phenylketonuria (PKU) Doctors Near Me in Pennsylvania, US

Find the Top Phenylketonuria (PKU) Experts and Specialists

The 20 Best Phenylketonuria (PKU) Doctors in Pennsylvania, US

Last Updated: 02/22/2026

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MediFind found 34 doctor with experience in Phenylketonuria (PKU) near Pennsylvania, US. Of these, 23 are Experienced, 6 are Advanced and 5 are Distinguished.

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34 providers found
    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). Her top areas of expertise are Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Inborn Amino Acid Metabolism Disorder.

    Joseph J. Melvin
    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). His top areas of expertise are West Syndrome, Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), and Seizures.

    Advanced in Phenylketonuria (PKU)
    Advanced in Phenylketonuria (PKU)

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

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

    . Dr. Narumanchi is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    Learn about our expert tiers
    Advanced in Phenylketonuria (PKU)
    Medical Genetics
    Advanced in Phenylketonuria (PKU)
    Medical Genetics

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

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

    . Dr. Perszyk is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3.

    Francis X. Mcnesby
    Experienced in Phenylketonuria (PKU)
    Experienced in Phenylketonuria (PKU)

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

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

    . Dr. Mcnesby is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Autism Spectrum Disorder, Microcephaly, Delayed Growth, and HNRNPH2-Related Disorder.

    Gerard Vockley
    Advanced in Phenylketonuria (PKU)
    Advanced in Phenylketonuria (PKU)

    Medical Genetics Metabolic In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Gerard (Jerry) Vockley MD, PhD, is a medical geneticist and is certified in clinical genetics and biochemical and molecular genetics by the American Board of Medical Genetics and Genomics. He is chief of the Division of Medical Genetics, director of the Center for Rare Disease Therapy, and is the Cleveland Family Endowed Professor of pediatric research at the University of Pittsburgh School of Medicine. He completed his medical degree and PhD at the University of Pennsylvania and completed his residency at the University of Colorado, followed by his fellowship at Yale University School of Medicine. Dr. Vockley is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, and Arginase Deficiency.

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

    University Of Pittsburgh Physicians

    4401 Penn Ave, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Uta Lichter-Konecki is a Pediatrics specialist and a Medical Genetics provider in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as a Distinguished provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.

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

    Children's Hospital Of Philadelphia

    3401 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Rebecca Ahrens is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ahrens is rated as a Distinguished provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Noonan Syndrome.

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

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Galactose Epimerase Deficiency.

    Distinguished in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Distinguished in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    500 University Dr, Mc A410, 
    Hershey, PA 
    Languages Spoken:
    English

    Patricia Gordon is a Medical Genetics specialist and a Pediatrics provider in Hershey, Pennsylvania. Dr. Gordon is rated as a Distinguished provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Phenylketonuria (PKU), Perlman Syndrome, Beckwith-Wiedemann Syndrome, and Marshall-Smith Syndrome.

    Vikram K. Raghu
    Experienced in Phenylketonuria (PKU)
    Experienced in Phenylketonuria (PKU)

    Liver And Intestine Transplant At Pediatric Gastroenterology In Lawrenceville

    4401 Penn Avenue, 
    Pittsburgh, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Vikram Raghu, MD, MS, is a pediatric gastroenterologist and transplant hepatologist. He is a member of the Intestinal Care and Rehabilitation Center and is an assistant professor of pediatrics at the University of Pittsburgh School of Medicine. He received his medical degree from the University of Pittsburgh School of Medicine and completed his residency at UPMC Children’s Hospital of Pittsburgh, followed by his fellowships in both pediatric gastroenterology and transplant hepatology at UPMC Children’s Hospital of Pittsburgh.Dr. Raghu’s clinical interests include intestinal failure, intestinal rehabilitation, and intestinal transplant, and his research interests include decision-making in these fields. He has several publications spanning pediatric intestinal failure and both liver and intestinal transplant and is a member of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition, the Intestinal Rehabilitation and Transplant Association, and the American Society for Parenteral and Enteral Nutrition. He lives north of the city with his wife and two kids and enjoys music, dance, and cheering on all the Pittsburgh sports teams.View a full list of Dr. Raghu’s publications on Google Scholar. Dr. Raghu is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Childhood Iron Deficiency Anemia, Anemia, Biliary Atresia, and Phenylketonuria (PKU).

    Advanced in Phenylketonuria (PKU)
    Advanced in Phenylketonuria (PKU)

    Office

    1200 W Tabor Rd Ste 141, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Edith Hasbrouck is a Geriatrics provider in Philadelphia, Pennsylvania. Dr. Hasbrouck is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Phenylketonuria (PKU), Moebius Syndrome, Autism Spectrum Disorder, and Painful Swallowing.

    Advanced in Phenylketonuria (PKU)
    Family Medicine
    Advanced in Phenylketonuria (PKU)
    Family Medicine

    Frankford Avenue Family Practice P.C.

    8846 Frankford Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Paul Miller is a primary care provider, practicing in Family Medicine in Philadelphia, Pennsylvania. Dr. Miller is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Postmenopausal Osteoporosis, Osteoporosis, Phenylketonuria (PKU), and Cirrhosis.

    Advanced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Advanced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    119 Adrienne Ln, 
    Wynnewood, PA 
    Languages Spoken:
    English

    Michael Schneider is a Medical Genetics specialist and a Pediatrics provider in Wynnewood, Pennsylvania. Dr. Schneider is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Microcephaly, Chromosome 6q Duplication, Chromosome 8p Deletion, and Delayed Growth.

    Rahul D. Bharucha
    Experienced in Phenylketonuria (PKU)
    Family Medicine
    Experienced in Phenylketonuria (PKU)
    Family Medicine

    Geisinger Mountain Top - Community Medicine

    35 South Mountain Boulevard, 
    Mountain Top, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Dr. Bharucha is a board-certified physician specializing in family medicine. His clinical interests include adult medicine, adolescent medicine and geriatric medicine. Dr. Bharucha attended the American University of the Caribbean School of Medicine, where he received his medical degree, and completed his residency at Geisinger Wyoming Valley Medical Center. He is certified by the American Board of Family Medicine. Dr. Bharucha is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Maturity Onset Diabetes of the Young, Type 2 Diabetes (T2D), Hypothyroidism, and Glucocorticoid-Remediable Aldosteronism.

    Lina G. Gonzalez
    Experienced in Phenylketonuria (PKU)
    Experienced in Phenylketonuria (PKU)

    Medical Genetics In Hermitage

    449 North Hermitage Road, 
    Hermitage, PA 
    Languages Spoken:
    English, Arabic, Spanish
    Accepting New Patients
    Offers Telehealth

    Lina Ghaloul-Gonzalez, MD, is a geneticist at UPMC Children’s Hospital of Pittsburgh. She is also an assistant professor of pediatrics in the Division of Genetic and Genomic Medicine with secondary appointment in the Department of Human Genetics in the University of Pittsburgh’s Graduate School of Public Health. She is board-certified in internal medicine, clinical genetics, and biochemical genetics. Dr. Gonzalez is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Rhabdomyolysis, Hyperlysinemia, Metabolic Acidosis, and Glycine Encephalopathy.

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

    Children's Hospital Of Philadelphia

    3401 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Chaya Murali is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Murali is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Osteogenesis Imperfecta, Retinopathy Pigmentary Mental Retardation, Autism Spectrum Disorder, Chromosome 11 Uniparental Disomy, and Myringotomy.

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

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Rebecca Ganetzky is a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ganetzky is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Leigh Syndrome, Kearns-Sayre Syndrome, Pyruvate Carboxylase Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, and Splenectomy.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Metabolism, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Neal Sondheimer is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Sondheimer is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Homocystinuria, and Phenylketonuria (PKU).

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

    Childrens Health Care Associates Inc

    3401 Civic Ctr Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Offers Telehealth

    Kim Ng is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ng is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Citrullinemia, Maple Syrup Urine Disease, Beta-Ketothiolase Deficiency, and Argininosuccinic Aciduria.

    Showing 1-20 of 34

    Last Updated: 02/22/2026

    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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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 Pennsylvania, 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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