The 20 Best X-Linked Creatine Deficiency Doctors in The United States

Find the Top X-Linked Creatine Deficiency Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 288 doctor with experience in X-Linked Creatine Deficiency near The United States. Of these, 225 are Experienced, 50 are Advanced, 12 are Distinguished and 1 are Elite.

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288 providers found
    Elite in X-Linked Creatine Deficiency
    Pediatrics | Medical Genetics
    Elite in X-Linked Creatine Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    Vandever Medical Offices

    4405 Vandever Ave, 
    San Diego, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Simona Bianconi is a Pediatrics specialist and a Medical Genetics provider practicing medicine in San Diego, California. Dr. Bianconi is rated as an Elite provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, Niemann-Pick Disease, and Reticulohistiocytoma. Dr. Bianconi is currently accepting new patients.

    Distinguished in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Distinguished in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Referral required

    Duke University Hospital

    2301 Erwin Rd, 
    Durham, NC 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Dwight Koeberl is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Durham, North Carolina. Dr. Koeberl is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Von Gierke Disease, Propionic Acidemia, and X-Linked Creatine Deficiency. Dr. Koeberl is board certified in American Board Of Medical Genetics, Clinical Biochemical Genetics , American Board Of Medical Genetics, Clinical Genetics And Genomics - General , and American Board Of Pediatrics, General Pediatrics. Dr. Koeberl is currently accepting new patients.

    Experienced in X-Linked Creatine Deficiency
    Experienced in X-Linked Creatine Deficiency
    Referral may be required

    Midwest Heart And Vascular Specialists - Lexington

    1500 State St, 
    Lexington, MO 
    Languages Spoken:
    English, Russian, Spanish
    Accepting New Patients

    Alan Schneider is a Cardiologist practicing medicine in Lexington, Missouri. Dr. Schneider is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 36 other conditions, according to our data. His clinical expertise encompasses Pediatric Myocarditis, Aortic Regurgitation, Necrosis, and Atherosclerosis. Dr. Schneider is currently accepting new patients.

    Learn about our expert tiers
    Experienced in X-Linked Creatine Deficiency
    Interventional Cardiology
    Experienced in X-Linked Creatine Deficiency
    Interventional Cardiology
    Referral may be required

    Midwest Heart And Vascular Specialists - Independence

    19550 E 39th St S Ste 215, 
    Independence, MO 
    Languages Spoken:
    English, Spanish
    Accepting New Patients

    Paul Nager is an Interventional Cardiologist practicing medicine in Independence, Missouri. Dr. Nager is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Pediatric Myocarditis, Coronary Heart Disease, Atherosclerosis, Aortic Regurgitation, and Pacemaker Implantation. Dr. Nager is currently accepting new patients.

    Experienced in X-Linked Creatine Deficiency
    Pediatric Neurology
    Experienced in X-Linked Creatine Deficiency
    Pediatric Neurology
    Referral may be required

    Rhode Island Hospital

    335R Prairie Ave Ste 1A, 
    Providence, RI 
    Languages Spoken:
    English

    Luca Bartolini is a Pediatric Neurologist practicing medicine in Providence, Rhode Island. Dr. Bartolini is rated as an Experienced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Epilepsy, Genetic Epilepsy with Febrile Seizures Plus (GEFS+), Rasmussen Encephalitis, and Seizures.

    Distinguished in X-Linked Creatine Deficiency
    Internal Medicine
    Distinguished in X-Linked Creatine Deficiency
    Internal Medicine

    Yale New Haven Hospital

    20 York St, 
    New Haven, CT 
    Languages Spoken:
    English

    Fady Hannah-Shmouni is a primary care provider, practicing in Internal Medicine in New Haven, Connecticut. Dr. Hannah-Shmouni is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses X-Linked Creatine Deficiency, Erdheim-Chester Disease, Non-Langerhans-Cell Histiocytosis, and Reticulohistiocytoma.

    Distinguished in X-Linked Creatine Deficiency
    Distinguished in X-Linked Creatine Deficiency
    Referral may be required

    Blue Ridge Cancer Center

    2013 Jefferson St SW, 
    Roanoke, VA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Matthew Skelton is a Hematologist practicing medicine in Roanoke, Virginia. Dr. Skelton is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses X-Linked Creatine Deficiency, Non-Hodgkin Lymphoma, Hodgkin Lymphoma, Classical Hodgkin Lymphoma, and Bone Marrow Aspiration. Dr. Skelton is currently accepting new patients.

    Distinguished in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Distinguished in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Referral may be required
    10 Center Dr, 10-crc, Room 5-2571, 
    Bethesda, MD 
    Languages Spoken:
    English

    Forbes Porter is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Porter is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

    Distinguished in X-Linked Creatine Deficiency
    Nurse Practitioner
    Distinguished in X-Linked Creatine Deficiency
    Nurse Practitioner
    Referral may be required

    Legacy Healthcare Services Inc

    2100 10th Ave, 
    Vero Beach, FL 
    Languages Spoken:
    English
    Offers Telehealth

    Medina Yasin is a Nurse Practitioner practicing medicine in Vero Beach, Florida. Yasin, NP is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 5 other conditions, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, Malonyl-CoA Decarboxylase Deficiency, GABA-Transaminase Deficiency, and Succinic Semialdehyde Dehydrogenase Deficiency.

    Distinguished in X-Linked Creatine Deficiency
    Distinguished in X-Linked Creatine Deficiency
    Referral may be required

    Laboratory Corporation Of America Holdings

    1786 Moon Lake Blvd, 
    Hoffman Estates, IL 
    Languages Spoken:
    English

    Melanie Brandabur is a Neurologist practicing medicine in Hoffman Estates, Illinois. Dr. Brandabur is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, Movement Disorders, Epilepsy Juvenile Absence, and Parkinson's Disease.

    Distinguished in X-Linked Creatine Deficiency
    Pediatric Neurology
    Distinguished in X-Linked Creatine Deficiency
    Pediatric Neurology
    Referral may be required

    Department Of Neurology

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

    Irina Anselm is a Pediatric Neurologist practicing medicine in Boston, Massachusetts. Dr. Anselm is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, Kearns-Sayre Syndrome, Thymidine Kinase 2 Deficiency (TK2d), and MELAS Syndrome. Dr. Anselm is currently accepting new patients.

    Distinguished in X-Linked Creatine Deficiency
    Pediatric Endocrinology
    Distinguished in X-Linked Creatine Deficiency
    Pediatric Endocrinology
    Referral may be required

    Peyton Manning Children's Hospital At Ascension St. Vincent-Pediatric Ear Nose And Throat

    8402 Harcourt Rd Ste 300, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients

    Samar Rahhal is a Pediatric Endocrinologist practicing medicine in Indianapolis, Indiana. Dr. Rahhal is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Smith-Lemli-Opitz Syndrome, X-Linked Creatine Deficiency, and Niemann-Pick Disease. Dr. Rahhal is currently accepting new patients.

    Distinguished in X-Linked Creatine Deficiency
    General Surgery
    Distinguished in X-Linked Creatine Deficiency
    General Surgery
    Referral may be required

    Office

    200 Medical Plz, 
    Los Angeles, CA 
    Languages Spoken:
    English

    Gerald Lipshutz is a General Surgeon practicing medicine in Los Angeles, California. Dr. Lipshutz is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), X-Linked Creatine Deficiency, End-Stage Renal Disease (ESRD), Kidney Transplant, and Simultaneous Pancreas Kidney Transplant.

    Distinguished in X-Linked Creatine Deficiency
    Pediatrics | Medical Genetics
    Distinguished in X-Linked Creatine Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    Texas Childrens Physician Group

    8611 N Mopac Expy, 
    Austin, TX 
    Languages Spoken:
    English
    Accepting New Patients

    Vernon Sutton is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Austin, Texas. Dr. Sutton is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Osteogenesis Imperfecta, Robinow Syndrome, Genital Dwarfism, and 2q37 Deletion Syndrome. Dr. Sutton is currently accepting new patients.

    Distinguished in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics | Physiatry
    Distinguished in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics | Physiatry
    Referral may be required

    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 practicing medicine in Philadelphia, Pennsylvania. Dr. Ficicioglu is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. 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 Gaucher Disease.

    Distinguished in X-Linked Creatine Deficiency
    Family Medicine
    Distinguished in X-Linked Creatine Deficiency
    Family Medicine

    Express Care Of Belleview, LLC

    10762seus Hwy 441, 
    Belleview, FL 
    Languages Spoken:
    English
    Accepting New Patients

    Shirley Ice is a primary care provider, practicing in Family Medicine in Belleview, Florida. Dr. Ice is rated as a Distinguished provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 69 other conditions, according to our data. Her clinical expertise encompasses Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Bronchitis. Dr. Ice is currently accepting new patients.

    Advanced in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Advanced in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Pediatric Otolaryngology Clinic

    1540 E Hospital Dr, Floor 2 Reception A, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Kristen Lee is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Lee is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 139 other conditions, according to our data. Her clinical expertise encompasses Biotinidase Deficiency, Delayed Growth, Beta-Ketothiolase Deficiency, and Triple X Syndrome. Dr. Lee is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics & Genomics. Dr. Lee is currently accepting new patients.

    Advanced in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Advanced in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Pediatric Genetics Clinic

    1540 E Hospital Dr, Floor 6 Reception C, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Elizabeth Ames is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Ames is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 116 other conditions, according to our data. Her clinical expertise encompasses Delayed Growth, Noonan Syndrome, Cardiomyopathic Lentiginosis, and Cardiofaciocutaneous Syndrome. Dr. Ames is board certified in Pediatrics, Medical Biochemical Genetics, and Clinical Genetics & Genomics. Dr. Ames is currently accepting new patients.

    Advanced in X-Linked Creatine Deficiency
    Family Medicine
    Advanced in X-Linked Creatine Deficiency
    Family Medicine

    Carolinas Hospitalist Group At Atrium Health University City

    8800 N. Tryon St., 
    Charlotte, NC 
    Languages Spoken:
    English
    Accepting New Patients

    Salena Linberg is a primary care provider, practicing in Family Medicine in Charlotte, North Carolina. Dr. Linberg is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses X-Linked Creatine Deficiency, GABA-Transaminase Deficiency, Malonyl-CoA Decarboxylase Deficiency, and Succinic Semialdehyde Dehydrogenase Deficiency. Dr. Linberg is board certified in American Board Of Family Medicine. Dr. Linberg is currently accepting new patients.

    Advanced in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Advanced in X-Linked Creatine Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    University Of Michigan Pediatric Genetics Clinic

    1540 East Hospital Drive, Floor 6, 
    Ann Arbor, MI 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Ann Arbor, Michigan. Dr. Quinonez is rated as an Advanced provider by MediFind in the treatment of X-Linked Creatine Deficiency. He is also highly rated in 130 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Propionic Acidemia. Dr. Quinonez is board certified in Pediatrics, American Board Of Pediatrics, Pediatrics - 2011, Clinical Biochemical Genetics, American Board Of Medical Genetics And Genomics, Medical Biochemical Genetics - 2015 , American Board Of Medical Genetics And Genomics, Clinical Biochemical Genetics - 2024 , and Clinical Genetics & Genomics. Dr. Quinonez is currently accepting new patients.

    Showing 1-20 of 288

    Last Updated: 11/08/2026

    What is the definition of X-Linked Creatine Deficiency?

    X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention-deficit/hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may grow slower and develop motor skills, such as sitting and walking, later than their peers. Affected individuals tend to tire easily.

    When should I see a X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine Deficiency doctor search results page. 

    Why is it important to get a second opinion from a different X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine 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 X-Linked Creatine Deficiency doctors in The United States?

    Look for the filter feature on the left side of the X-Linked Creatine 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 X-Linked Creatine Deficiency doctor that offers video calls?

    Look for the filter feature on the left-side of the X-Linked Creatine 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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