Filters

Specialty
Additional Specialty
Distance
    Gender
    Insurance
    Availability
    Language
    Years of Experience
    Level of Expertise

    Last Updated: 10/30/2025

    Save doctors for later
    Sign Up
    Not sure about your diagnosis?
    Check Your Symptoms
    Already have a doctor?
    Find A Second Opinion

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

    Location
    LocationClose
    14 providers found
      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 Michl is a Nurse Practitioner in Boston, Massachusetts. Ms. Michl is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Glycogen Storage Disease Type 0, Glycogen Storage Disease Type 7, Von Gierke Disease, and Glycogen Storage Disease Type 13. Ms. Michl is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      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 11 Uniparental Disomy, Mosaic Variegated Aneuploidy Syndrome, Chromosome 2 Uniparental Disomy, and Tetrasomy 9p. Dr. O'donnell-Luria is currently accepting new patients.

      Learn about our expert tiers
      Experienced in Beta-Ketothiolase Deficiency
      Medical Genetics
      Experienced in Beta-Ketothiolase Deficiency
      Medical Genetics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, Bch3446, 
      Boston, MA 
      Languages Spoken:
      English
      Offers Telehealth

      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
      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, Bch3446, 
      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 | Pediatric Neurology | Pediatrics
      Experienced in Beta-Ketothiolase Deficiency
      Medical Genetics | Pediatric Neurology | Pediatrics

      Children's Hospital Pediatric Associates, Inc

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

      Lance Rodan is a Medical Genetics specialist and a Pediatric Neurologist 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. Dr. Rodan is currently accepting new patients.

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

      Lahey Clinic Inc

      41 Mall Rd, Lahey Provider Enrollment Dept, 
      Burlington, MA 
      Languages Spoken:
      English, Spanish
      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, and Melorheostosis with Osteopoikilosis.

      Experienced in Beta-Ketothiolase Deficiency
      Experienced in Beta-Ketothiolase Deficiency
      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 | Pediatrics
      Experienced in Beta-Ketothiolase Deficiency
      Pediatric Gastroenterology | Pediatrics
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Douglas Fishman is a Pediatric Gastroenterologist and a Pediatrics provider in Boston, Massachusetts. Dr. Fishman is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Childhood Pancreatitis, Chronic Pancreatitis, Hereditary Pancreatitis, Endoscopy, and Colonoscopy. Dr. Fishman is currently accepting new patients.

      Experienced in Beta-Ketothiolase Deficiency
      Medical Genetics | Pediatrics
      Experienced in Beta-Ketothiolase Deficiency
      Medical Genetics | Pediatrics

      Children's Hospital Pediatric Associates, Inc

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

      Amy Kritzer is a Medical Genetics specialist and 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 Smith-Lemli-Opitz Syndrome. Dr. Kritzer is currently accepting new patients.

      Experienced in Beta-Ketothiolase Deficiency
      Intensive Care Medicine | Pediatrics
      Experienced in Beta-Ketothiolase Deficiency
      Intensive Care Medicine | Pediatrics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English

      Katherine Peeler is an Intensive Care Medicine specialist and 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).

      Massachusetts General Physicians Organization Inc

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

      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 Epilepsy. Dr. Ritzl is currently accepting new patients.

      Showing 1-14 of 14

      Last Updated: 10/30/2025

      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 

      Read more about our Content Policy

      More Beta-Ketothiolase Deficiency Doctors by city

      Recommended has been selected.