The 20 Best Beta-Ketothiolase Deficiency Doctors Near Me in Massachusetts, US

Find the Top Beta-Ketothiolase Deficiency Experts and Specialists

The 20 Best Beta-Ketothiolase Deficiency Doctors in Massachusetts, US

Last Updated: 02/22/2026

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MediFind found 14 doctor with experience in Beta-Ketothiolase Deficiency near Massachusetts, US. Of these, 13 are Experienced and 1 are Advanced.

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14 providers found
    Experienced in Beta-Ketothiolase Deficiency
    Experienced in Beta-Ketothiolase Deficiency

    Boston Children's Hospital

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    Katherine Peeler is a Pediatrics provider in Boston, Massachusetts. Dr. Peeler is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), Mucopolysaccharidosis Type 3B (MPS IIIB, Sanfilippo Syndrome B), and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A).

    Experienced in Beta-Ketothiolase Deficiency
    Experienced in Beta-Ketothiolase Deficiency

    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 an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A).

    Massachusetts General Physicians Organization Inc

    55 Fruit St, 
    Boston, MA 
    Languages Spoken:
    English, German

    Eva Ritzl is a Neurologist in Boston, Massachusetts. Dr. Ritzl is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Absence Seizure, and Status Epilepticus.

    Learn about our expert tiers
    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Beta-Ketothiolase Deficiency
    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 Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

    Experienced in Beta-Ketothiolase Deficiency
    Nurse Practitioner
    Experienced in Beta-Ketothiolase Deficiency
    Nurse Practitioner

    Children's Hospital Pediatric Associates, Inc

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

    Emma Jannotta is a Nurse Practitioner in Boston, Massachusetts. Ms. Jannotta is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Von Gierke Disease, Glycogen Storage Disease Type 7, Phosphoglycerate Kinase Deficiency, and Glycogen Storage Disease Type 0. Ms. Jannotta is currently accepting new patients.

    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Beta-Ketothiolase Deficiency
    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 Beta-Ketothiolase Deficiency. 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 Beta-Ketothiolase Deficiency
    Medical Genetics
    Experienced in Beta-Ketothiolase Deficiency
    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 Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. 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).

    Experienced in Beta-Ketothiolase Deficiency
    Internal Medicine
    Experienced in Beta-Ketothiolase Deficiency
    Internal Medicine

    Charles River Endoscopy LLC

    571 Union Ave, 
    Framingham, MA 
    Languages Spoken:
    English

    Li-ming Hu is a primary care provider, practicing in Internal Medicine in Framingham, Massachusetts. Dr. Hu is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Anemia, Folate Deficiency, Multiple Carboxylase Deficiency, and Vitamin B12 Deficiency Anemia.

    Experienced in Beta-Ketothiolase Deficiency
    Nurse Practitioner
    Experienced in Beta-Ketothiolase Deficiency
    Nurse Practitioner

    Children's Hospital Pediatric Associates, Inc

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

    Brittany Murray is a Nurse Practitioner in Boston, Massachusetts. Ms. Murray is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Hyperlysinemia, Beta-Ketothiolase Deficiency, and Urea Cycle Disorders (UCD). Ms. Murray is currently accepting new patients.

    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Beta-Ketothiolase Deficiency
    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 Beta-Ketothiolase Deficiency. His top areas of expertise are Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Wolman Disease, and Fetal Thalidomide Syndrome.

    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics
    Experienced in Beta-Ketothiolase Deficiency
    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 Beta-Ketothiolase Deficiency. His top areas of expertise are Hennekam Syndrome, Increased Head Circumference, Polymicrogyria, Retinopathy Pigmentary Mental Retardation, and Deep Brain Stimulation.

    Experienced in Beta-Ketothiolase Deficiency
    Internal Medicine
    Experienced in Beta-Ketothiolase Deficiency
    Internal Medicine

    Bilh Pharmacy 67 S Bedford St Burlington

    67 S Bedford St, 
    Burlington, MA 
    Languages Spoken:
    English
    Offers Telehealth

    Kara Nugent is a primary care provider, practicing in Internal Medicine in Burlington, Massachusetts. Dr. Nugent is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Osteoporosis, Postmenopausal Osteoporosis, Melorheostosis with Osteopoikilosis, and Melorheostosis.

    Experienced in Beta-Ketothiolase Deficiency
    Experienced in Beta-Ketothiolase Deficiency

    Boston Children's Hospital

    300 Longwood Ave, 
    Boston, MA 
    Languages Spoken:
    English

    Blair Streater is a Pediatrics provider in Boston, Massachusetts. Dr. Streater is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top area of expertise is Beta-Ketothiolase Deficiency.

    Experienced in Beta-Ketothiolase Deficiency
    Pediatric Gastroenterology
    Experienced in Beta-Ketothiolase Deficiency
    Pediatric Gastroenterology

    Massachusetts General Hospital

    55 Fruit St, 
    Boston, MA 
    Languages Spoken:
    English

    Nanda Kerkar is a Pediatric Gastroenterologist in Boston, Massachusetts. Dr. Kerkar is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Alagille Syndrome, Autoimmune Hepatitis, Biliary Atresia, Liver Transplant, and Pancreas Transplant.

    Showing 1-14 of 14

    Last Updated: 02/22/2026

    What is the definition of Beta-Ketothiolase Deficiency?

    Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats.

    When should I see a Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency doctors in Massachusetts, US?

    Look for the filter feature on the left side of the Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the Beta-Ketothiolase Deficiency 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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