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

Find the Top Phenylketonuria (PKU) Experts and Specialists

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

Last Updated: 02/22/2026

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MediFind found 20 doctor with experience in Phenylketonuria (PKU) near Massachusetts, US. Of these, 13 are Experienced, 4 are Advanced, 2 are Elite and 1 are Distinguished.

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20 providers found
    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 in Boston, Massachusetts. Dr. Levy is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are 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 in Boston, Massachusetts. Dr. Sacharow is rated as an Elite provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

    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 in Boston, Massachusetts. Dr. Kritzer is rated as a Distinguished provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A).

    Learn about our expert tiers
    Experienced in Phenylketonuria (PKU)
    Experienced in Phenylketonuria (PKU)

    Massachusetts General Physicians Organization Inc

    55 Fruit St, 
    Boston, MA 
    Languages Spoken:
    English
    Offers Telehealth

    David Sweetser is a Pediatrics provider in Boston, Massachusetts. Dr. Sweetser is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Hypotonia, Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, and Propionic Acidemia.

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

    The General Hospital Corporation

    55 Fruit St, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Inderneel Sahai is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sahai is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Maple Syrup Urine Disease, Phenylketonuria (PKU), Increased Head Circumference, and De Barsy Syndrome. Dr. Sahai is currently accepting new patients.

    Advanced in Phenylketonuria (PKU)
    Medical Genetics
    Advanced in Phenylketonuria (PKU)
    Medical Genetics

    Children's Hospital Pediatric Associates, Inc

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

    Olaf Bodamer is a Medical Genetics provider in Boston, Massachusetts. Dr. Bodamer is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Kabuki Syndrome, Niemann-Pick Disease, Classic Galactosemia, and Mucopolysaccharidoses (MPS). Dr. Bodamer is currently accepting new patients.

    Advanced in Phenylketonuria (PKU)
    Medical Genetics
    Advanced in Phenylketonuria (PKU)
    Medical Genetics

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    Melinda Peters is a Medical Genetics provider in Boston, Massachusetts. Dr. Peters is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

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

    Baystate Medical Practices Inc

    50 Wason Ave, 
    Springfield, MA 
    Languages Spoken:
    English

    Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Springfield, Massachusetts. Dr. Abbott is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Pompe Disease, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Danon Disease, and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).

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

    Office

    801 Massachusetts Ave Fl 6, 
    Boston, MA 
    Languages Spoken:
    English

    Kevin Dibona is a primary care provider, practicing in Internal Medicine in Boston, Massachusetts. Dr. Dibona is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top area of expertise is Phenylketonuria (PKU).

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    750 Washington St, NEMC Box 836, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Cheryl Garganta is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Garganta is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Hyperlysinemia, Glutaric Acidemia Type 1, Tyrosinemia Type 2, and Tyrosinemia Type 3. Dr. Garganta is currently accepting new patients.

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

    Department Of Neurology

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    Lance Rodan is a Medical Genetics provider in Boston, Massachusetts. Dr. Rodan is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Hennekam Syndrome, Increased Head Circumference, Polymicrogyria, Retinopathy Pigmentary Mental Retardation, and Deep Brain Stimulation.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    300 Longwood Ave, Boston Children's Hospital, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Gerard Berry is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Berry is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Classic Galactosemia, Galactose Epimerase Deficiency, Galactosemia, and Maple Syrup Urine Disease. Dr. Berry is currently accepting new patients.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    300 Longwood Ave, Children's Hospital Boston, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Deborah Marsden is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Marsden is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidoses (MPS), Hydrops Fetalis, and Fetal Edema. Dr. Marsden is currently accepting new patients.

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

    The General Hospital Corporation

    55 Fruit St, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Nina Gold is a Pediatrics specialist and a Medical Genetics provider in Boston, Massachusetts. Dr. Gold is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Maple Syrup Urine Disease, Inborn Amino Acid Metabolism Disorder, Retinopathy Pigmentary Mental Retardation, and Williams Syndrome. Dr. Gold is currently accepting new patients.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    William Brucker is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Brucker is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Wolman Disease, and Fetal Thalidomide Syndrome.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics
    80 Pleasant St, Apt #51, 
    Brookline, MA 
    Languages Spoken:
    English

    Yuval Landau is a Medical Genetics provider in Brookline, Massachusetts. Dr. Landau is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Classic Galactosemia, Orotic Aciduria Type 1, Urea Cycle Disorders (UCD), and Maple Syrup Urine Disease.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    David Harris is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Harris is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). His top areas of expertise are Cat Eye Syndrome, Branchio-Oculo-Facial Syndrome (BOFS), Congenital Athymia, and Autism Spectrum Disorder. Dr. Harris is currently accepting new patients.

    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    Experienced in Phenylketonuria (PKU)
    Medical Genetics | Pediatrics
    300 Longwood Ave, Hunnewell 5, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Anne O'donnell-Luria is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. O'donnell-Luria is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Chromosome 2 Uniparental Disomy, Chromosome 6 Uniparental Disomy, Chromosome 11 Uniparental Disomy, and Pallister-Killian Mosaic Syndrome. Dr. O'donnell-Luria is currently accepting new patients.

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

    Pediatrics At Newton Wellesley

    2000 Washington St Ste 466, 
    Newton, MA 
    Languages Spoken:
    English

    Tetiana Pronchick is a Pediatrics provider in Newton, Massachusetts. Dr. Pronchick is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Delayed Growth, Croup, Celiac Disease, and Familial Short Stature (FSS).

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

    East Milton Pediatrics Inc.

    464 Granite Ave, 
    Milton, MA 
    Languages Spoken:
    English

    Mary Timmins is a Pediatrics provider in Milton, Massachusetts. Dr. Timmins is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her top areas of expertise are Croup, Delayed Growth, Developmental Dysphasia Familial, and Short Stature (Growth Disorders).

    Showing 1-20 of 20

    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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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 Massachusetts, 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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