The 20 Best Maple Syrup Urine Disease Doctors Near Me in Pennsylvania, US

Find the Top Maple Syrup Urine Disease Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 12 doctor with experience in Maple Syrup Urine Disease near Pennsylvania, US. Of these, 7 are Experienced, 4 are Advanced and 1 are Distinguished.

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12 providers found
    Experienced in Maple Syrup Urine Disease
    Medical Genetics
    Experienced in Maple Syrup Urine Disease
    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 Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3. Dr. Perszyk is board certified in American Board Of Medical Genetics And Genomics.

    Distinguished in Maple Syrup Urine Disease
    Distinguished in Maple Syrup Urine Disease

    Children's Hospital Of Philadelphia

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

    Rebecca Ahrens is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ahrens is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and RASopathies.

    Advanced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    Advanced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics

    Childrens Health Care Associates Inc

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

    Kim Ng is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ng is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Citrullinemia, Maple Syrup Urine Disease, Beta-Ketothiolase Deficiency, and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency.

    Learn about our expert tiers
    Advanced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics | Developmental and Behavioral Pediatrics
    Advanced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics | Developmental and Behavioral Pediatrics
    3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Metabolism, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Marc Yudkoff is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Yudkoff is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), N-Acetylglutamate Synthase Deficiency, Maple Syrup Urine Disease, and Ornithine Translocase Deficiency.

    Advanced in Maple Syrup Urine Disease
    Pediatrics | Medical Genetics
    Advanced in Maple Syrup Urine Disease
    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 practicing medicine in Pittsburgh, Pennsylvania. Dr. Lichter-Konecki is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maple Syrup Urine Disease, and Hypotonia.

    Advanced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    Advanced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    3401 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Parith Wongkittichote is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Wongkittichote is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Hypotonia, Dihydrolipoamide Dehydrogenase Deficiency, Glutaric Acidemia Type 1, and Multiple Sulfatase Deficiency.

    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics | Physiatry
    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics | Physiatry

    Childrens Health Care Associates Inc

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

    Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Homocystinuria.

    Experienced in Maple Syrup Urine Disease
    Pediatrics | Medical Genetics
    Experienced in Maple Syrup Urine Disease
    Pediatrics | Medical Genetics
    34th St. & Civic Center Blvd, The Children's Hospital Of Philadelphia, Room 9nw55, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Elizabeth Bhoj is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Bhoj is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 34 other conditions, according to our data. Her clinical expertise encompasses Hardikar Syndrome, Coffin-Siris Syndrome, Acheiropody, Hypotonia, and Myringotomy.

    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics

    Childrens Health Care Associates Inc

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

    Marni Falk is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Falk is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Leigh Syndrome, Kearns-Sayre Syndrome, Progressive External Ophthalmoplegia, MELAS Syndrome, and Spinal Fusion.

    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    3401 Civic Center Blvd, Division Of Genetics, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Alanna Strong is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Strong is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Hardikar Syndrome, Clouston Syndrome, Aplasia Cutis Congenita, and Ectodermal Dysplasias.

    Experienced in Maple Syrup Urine Disease
    Pediatrics
    Experienced in Maple Syrup Urine Disease
    Pediatrics

    Office

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

    Paige Kaplan is a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Kaplan is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. Her clinical expertise encompasses Gaucher Disease, Gaucher Disease Type 3, Gaucher Disease Type 1, and Gaucher Disease Type 2.

    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    Experienced in Maple Syrup Urine Disease
    Medical Genetics | Pediatrics
    3401 Civic Center Blvd, Children's Hospital Of Philadelphia Metabolism Division, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Lynne Ierardi-Curto is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Ierardi-Curto is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. Her clinical expertise encompasses Ornithine Translocase Deficiency, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, and Urea Cycle Disorders (UCD).

    Showing 1-12 of 12

    Last Updated: 04/28/2026

    When should I see a Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease doctor search results page. 

    Why is it important to get a second opinion from a different Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease doctors in Pennsylvania, US?

    Look for the filter feature on the left side of the Maple Syrup Urine Disease 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 Maple Syrup Urine Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Maple Syrup Urine Disease 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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