The 20 Best Beta-Ketothiolase Deficiency Doctors in The United States

Find the Top Beta-Ketothiolase Deficiency Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 249 doctor with experience in Beta-Ketothiolase Deficiency near The United States. Of these, 206 are Experienced, 41 are Advanced and 2 are Distinguished.

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

    ETSU Physicians & Associates- Pediatrics

    325 N State Of Franklin Rd, 
    Johnson City, TN 
    Languages Spoken:
    English

    . Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

    Distinguished in Beta-Ketothiolase Deficiency
    Hematology Oncology | Hematology | Oncology
    Distinguished in Beta-Ketothiolase Deficiency
    Hematology Oncology | Hematology | Oncology

    Shailesh R Satpute, MD, PhD

    6029 Walnut Grove Rd Ste 301, 
    Memphis, TN 
    Languages Spoken:
    English

    Shailesh Satpute is a Hematologist Oncology specialist and a Hematologist practicing medicine in Memphis, Tennessee. Dr. Satpute is rated as a Distinguished provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Beta-Ketothiolase Deficiency, Iron Deficiency Anemia, Lung Cancer, Childhood Iron Deficiency Anemia, and Bone Marrow Aspiration.

    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics
    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English

    Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 50 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

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

    Rubenstein Child Health Building

    Baltimore, MD 
    Languages Spoken:
    English, Spanish

    Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, and Progressive External Ophthalmoplegia. Dr. Vernon is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.

    Advanced in Beta-Ketothiolase Deficiency
    Neuroradiology
    Advanced in Beta-Ketothiolase Deficiency
    Neuroradiology

    Johns Hopkins Bayview Medical Center

    4940 Eastern Avenue, 
    Baltimore, MD 
    Languages Spoken:
    English

    Dr. Michael Kraut is a Professor in the Johns Hopkins Medicine Department of Radiology and Radiological Science. Dr. Kraut received his undergraduate degree in B.S. in biomedical engineering from the University of Southern California, and M.D., M.S. and Ph.D. degrees in neuroscience from the Albert Einstein College of Medicine. After a residency in diagnostic radiology at Beth Israel Hospital in Boston, MA, he completed a fellowship in neuroradiology at The Johns Hopkins Hospital, and joined the Johns Hopkins faculty thereafter. Dr. Kraut’s research interests include functional neuroimaging, especially as a tool to investigate cognitive operations and issues of visual and somatomotor function. A special interest, reflecting his background in neurophysiology, is the use of functional imaging techniques in concert with electrophysiologic measures in order to elucidate the temporal sequence as well as spatial distribution of neural activation. In addition to his roles at Johns Hopkins, Dr. Kraut serves as the Medical Director at F.M. Kirby Research Center for Functional Brain Imaging. Dr. Kraut is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Pediatric Low-Grade Glioma (pLGG), Meningioma, Subarachnoid Hemorrhage, and Malignant Peripheral Nerve Sheath Tumor. Dr. Kraut is board certified in American Board Of Radiology.

    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. 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.

    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Beta-Ketothiolase Deficiency
    Medical Genetics | Pediatrics
    2201 Henderson Mill Rd Ne, Suite 160 C/o Esession, 
    Atlanta, GA 
    Languages Spoken:
    English, Japanese
    Accepting New Patients

    Mari Mori is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Atlanta, Georgia. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Von Gierke Disease, and Ornithine Transcarbamylase Deficiency. Dr. Mori is currently accepting new patients.

    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. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

    Distinguished in Beta-Ketothiolase Deficiency
    General Surgery
    Distinguished in Beta-Ketothiolase Deficiency
    General Surgery

    University Of California San Francisco

    505 Parnassus Ave, 
    San Francisco, CA 
    Languages Spoken:
    English

    Seiji Yamaguchi is a General Surgeon practicing medicine in San Francisco, California. Dr. Yamaguchi is rated as a Distinguished provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Glutaric Acidemia Type 2, Beta-Ketothiolase Deficiency, Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Kidney Transplant, and Nephrectomy.

    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics
    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 156 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

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

    UT Southwestern - Pediatrics

    5323 Harry Hines Blvd, 
    Dallas, TX 
    Languages Spoken:
    English, Spanish

    Luis Umana is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Dallas, Texas. Dr. Umana is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 177 other conditions, according to our data. His clinical expertise encompasses Classic Galactosemia, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Biotinidase Deficiency, and Argininosuccinic Aciduria.

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

    UT Southwestern - Pediatric Genetics

    1935 Medical District Dr, 
    Dallas, TX 
    Languages Spoken:
    English, Spanish

    Laura Mackay is a Medical Genetics provider practicing medicine in Dallas, Texas. Dr. Mackay is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. She is also highly rated in 132 other conditions, according to our data. Her clinical expertise encompasses Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).

    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics
    Advanced in Beta-Ketothiolase Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Jose Abdenur is a Medical Genetics provider practicing medicine in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 3, Malonyl-CoA Decarboxylase Deficiency, and Hyperlysinemia. Dr. Abdenur is currently accepting new patients.

    Advanced in Beta-Ketothiolase Deficiency
    Internal Medicine | Endocrinology
    Advanced in Beta-Ketothiolase Deficiency
    Internal Medicine | Endocrinology

    UT Southwestern - Internal Medicine Subspecialties

    2001 Inwood Rd, 8th Fl, 
    Dallas, TX 
    Languages Spoken:
    English
    Offers Telehealth

    Markey Mcnutt is an Internal Medicine specialist and an Endocrinologist practicing medicine in Dallas, Texas. Dr. Mcnutt is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 122 other conditions, according to our data. His clinical expertise encompasses Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Phenylketonuria (PKU), and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

    Advanced in Beta-Ketothiolase Deficiency
    Hematology Oncology | Hematology | Oncology
    Advanced in Beta-Ketothiolase Deficiency
    Hematology Oncology | Hematology | Oncology

    Baptist Cancer Center (Physicians)

    2996 Kate Bond Rd Ste 207, 
    Bartlett, TN 
    Languages Spoken:
    English

    William Walsh is a Hematologist Oncology specialist and a Hematologist practicing medicine in Bartlett, Tennessee. Dr. Walsh is rated as an Advanced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 54 other conditions, according to our data. His clinical expertise encompasses Porphyria Cutanea Tarda, Non-Hodgkin Lymphoma, Inflammatory Breast Cancer, and Small Cell Lung Cancer (SCLC).

    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. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Glutaric Acidemia Type 2, Fountain Syndrome, Beta-Ketothiolase Deficiency, and Acrodysostosis. Dr. Seeley is board certified in The American Board Of Medical Genetics And Genomics And By The American Board Of Pediatrics. Dr. Seeley is currently accepting new patients.

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

    Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Experience:
    8+ years
    Languages Spoken:
    English
    Offers Telehealth

    Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

    Experienced in Beta-Ketothiolase Deficiency
    General Surgery
    Experienced in Beta-Ketothiolase Deficiency
    General Surgery

    Akron General

    1 Akron General Avenue, 
    Akron, OH 
    Languages Spoken:
    English

    Farid Muakkassa is a General Surgeon practicing medicine in Akron, Ohio. Dr. Muakkassa is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Delirium, Subarachnoid Hemorrhage, Gastrointestinal Perforation, Bladder Reconstruction, and Gastrostomy. Dr. Muakkassa is board certified in United Council For Neurological Subspecialties, 2013.

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

    U Of M Pediatric Critical Care Special Services

    1500 E Medical Center Dr, 
    Ann Arbor, MI 
    Languages Spoken:
    English

    I was born and raised in Maumee, Ohio. I received my bachelor’s degree from Eastern Michigan University in Ypsilanti, Michigan and my medical degree from the University of Toledo in Toledo, Ohio. I was trained as a general pediatrician at Akron Children’s Hospital in Akron, Ohio and completed a chief resident year there, as well. I have just completed my fellowship training at Johns Hopkins Children’s Center in Baltimore, Maryland. My research interests are in the long-term outcome of survivors of the Pediatric Intensive Care Unit (PICU). Dr. Smith is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Chediak-Higashi Syndrome, Cri-Du-Chat Syndrome, Urea Cycle Disorders (UCD), Beta-Ketothiolase Deficiency, and Myringotomy. Dr. Smith is board certified in Pediatric Critical Care Medicine and Pediatrics.

    Experienced in Beta-Ketothiolase Deficiency
    Hematology Oncology | Hematology | Oncology
    Experienced in Beta-Ketothiolase Deficiency
    Hematology Oncology | Hematology | Oncology

    Baptist Cancer Center (Physicians)

    2996 Kate Bond Rd Ste 100, 
    Bartlett, TN 
    Languages Spoken:
    English
    Offers Telehealth

    Philip Lammers is a Hematologist Oncology specialist and a Hematologist practicing medicine in Bartlett, Tennessee. Dr. Lammers is rated as an Experienced provider by MediFind in the treatment of Beta-Ketothiolase Deficiency. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Breast Cancer, Lung Cancer, Paget Disease of the Breast, and Angiosarcoma.

    Showing 1-20 of 249

    Last Updated: 04/28/2026

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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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