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

Find the Top Phenylketonuria (PKU) Experts and Specialists

Last Updated: 04/28/2026

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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 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.

    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.

    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 practicing medicine in Boston, Massachusetts. Dr. Sweetser is rated as an Experienced 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 Hypotonia, Ornithine Translocase Deficiency, Ornithine Transcarbamylase Deficiency, and Propionic Acidemia. Dr. Sweetser is board certified in Pediatrics, Clinical Biochemical Genetics, Pediatric Hematology-Oncology, and Clinical Genetics And Genomics.

    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 practicing medicine in Boston, Massachusetts. Dr. Bodamer is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Kabuki Syndrome, Classic Galactosemia, Niemann-Pick Disease, and Microcephaly. Dr. Bodamer is currently accepting new patients.

    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 practicing medicine in Boston, Massachusetts. Dr. Sahai is rated as an Advanced 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 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

    Melinda Peters is a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Peters is rated as an Advanced provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 32 other conditions, according to our data. Her clinical expertise encompasses N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), and Mucopolysaccharidosis Type 7 (MPS VII, Sly 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 practicing medicine in Springfield, Massachusetts. Dr. Abbott 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 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 clinical expertise encompasses 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 practicing medicine in Boston, Massachusetts. Dr. Garganta is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Hyperlysinemia, Glutaric Acidemia Type 1, Tyrosinemia Type 3, and Tyrosinemia Type 1. 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 practicing medicine in Boston, Massachusetts. Dr. Rodan is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 172 other conditions, according to our data. His clinical expertise encompasses Polymicrogyria, Hennekam Syndrome, Increased Head Circumference, and Cortical Dysplasia.

    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 practicing medicine in Boston, Massachusetts. Dr. Berry is rated as an Experienced 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 Classic Galactosemia, Galactosemia, Galactose Epimerase Deficiency, 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 practicing medicine in Boston, Massachusetts. Dr. Marsden is rated as an Experienced 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 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
    Offers Telehealth

    Nina Gold is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Gold is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses 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 practicing medicine in Boston, Massachusetts. Dr. Brucker is rated as an Experienced 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 Wolman Disease, Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency, and Fetal Thalidomide Syndrome.

    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 practicing medicine in Boston, Massachusetts. Dr. Harris is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses 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
    Experienced in Phenylketonuria (PKU)
    Medical Genetics
    80 Pleasant St, Apt #51, 
    Brookline, MA 
    Languages Spoken:
    English

    Yuval Landau is a Medical Genetics provider practicing medicine in Brookline, Massachusetts. Dr. Landau is rated as an Experienced 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 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, Hunnewell 5, 
    Boston, MA 
    Languages Spoken:
    English
    Accepting New Patients

    Anne O'donnell-Luria is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. O'donnell-Luria is rated as an Experienced 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 Chromosome 11 Uniparental Disomy, Pallister-Killian Mosaic Syndrome, Chromosome 6 Uniparental Disomy, and Chromosome 2 Uniparental Disomy. 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 practicing medicine in Newton, Massachusetts. Dr. Pronchick is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her clinical expertise encompasses Delayed Growth, Croup, Proctitis, and Celiac Disease.

    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 practicing medicine in Milton, Massachusetts. Dr. Timmins is rated as an Experienced provider by MediFind in the treatment of Phenylketonuria (PKU). Her clinical expertise encompasses Croup, Delayed Growth, Developmental Dysphasia Familial, and Short Stature (Growth Disorders).

    Showing 1-20 of 20

    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 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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