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

Find the Top Beta-Ketothiolase Deficiency Experts and Specialists

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

Last Updated: 02/22/2026

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MediFind found 10 doctor with experience in Beta-Ketothiolase Deficiency near Pennsylvania, US. Of these, 8 are Experienced and 2 are Advanced.

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10 providers found
    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics
    Experienced in Beta-Ketothiolase Deficiency
    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 Beta-Ketothiolase Deficiency. His top areas of expertise are Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Mucolipidosis 3.

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

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    Andrea Seeley
    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics
    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics

    Geisinger Danville - Genetics

    15 Wesner Lane, Floor 1, 
    Danville, PA 
    Experience:
    17+ years
    Languages Spoken:
    English
    Accepting New Patients

    Dr. Seeley is a board-certified and fellowship-trained specialist in pediatric genetics. She earned her medical degree from Thomas Jefferson University. She completed her residency as well as a fellowship in pediatrics and medical genetics at the University of Michigan Hospitals and Health Centers. Dr. Seeley is certified by the American Board of Medical Genetics and Genomics and by the American Board of Pediatrics. Dr. Seeley is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Glutaric Acidemia Type 2, Fountain Syndrome, Beta-Ketothiolase Deficiency, and Acrodysostosis.

    Learn about our expert tiers
    Experienced in Beta-Ketothiolase Deficiency
    Nephrology
    Experienced in Beta-Ketothiolase Deficiency
    Nephrology

    Penn Renal Electrolyte And Hypertension Perelman

    3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Ghazal Quinn is a Nephrologist in Philadelphia, Pennsylvania. Dr. Quinn is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Hypophosphatasia (HPP), Childhood Hypophosphatasia (HPP), Juvenile Paget's Disease, and Hypophosphatemia. Dr. Quinn is currently accepting new patients.

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

    Penn Renal Electrolyte And Hypertension Perelman

    3400 Civic Center Boulevard, South Pavilion, 1st Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Melissa Bleicher is a Nephrologist in Philadelphia, Pennsylvania. Dr. Bleicher is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Lactic Acidosis, Respiratory Acidosis, Metabolic Acidosis, Cytomegalovirus Infection, and Kidney Transplant. Dr. Bleicher is currently accepting new patients.

    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics | Physiatry
    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics | Physiatry

    Childrens Health Care Associates Inc

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

    Can Ficicioglu is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Classic Galactosemia, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Urea Cycle Disorders (UCD), and Galactose Epimerase Deficiency.

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

    Childrens Health Care Associates Inc

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

    Kim Ng is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Ng is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Citrullinemia, Maple Syrup Urine Disease, Beta-Ketothiolase Deficiency, and Argininosuccinic Aciduria.

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

    Pittsburgh Office

    1020 Center Ave, 
    Pittsburgh, PA 
    Languages Spoken:
    English

    Kate Bachner is a Nurse Practitioner in Pittsburgh, Pennsylvania. Ms. Bachner is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Protein Deficiency, Seasonal Affective Disorder (SAD), Beta-Ketothiolase Deficiency, and Heart Failure with Preserved Ejection Fraction (HFpEF).

    Experienced in Beta-Ketothiolase Deficiency
    Pediatric Nephrology
    Experienced in Beta-Ketothiolase Deficiency
    Pediatric Nephrology

    Office

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

    Erum Hartung is a Pediatric Nephrologist in Philadelphia, Pennsylvania. Dr. Hartung is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. Her top areas of expertise are Autosomal Recessive Polycystic Kidney Disease, Potter Syndrome, Posterior Urethral Valves, Nephrotic Syndrome, and Kidney Transplant.

    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics | Developmental and Behavioral Pediatrics
    Experienced in Beta-Ketothiolase Deficiency
    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 in Philadelphia, Pennsylvania. Dr. Yudkoff is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), N-Acetylglutamate Synthase Deficiency, Maple Syrup Urine Disease, and Ornithine Translocase Deficiency.

    Showing 1-10 of 10

    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 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 Beta-Ketothiolase Deficiency 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 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 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 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 Pennsylvania, 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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