The 20 Best Mucolipidosis Type 4 Doctors in The United States

Find the Top Mucolipidosis Type 4 Experts and Specialists

Last Updated: 11/08/2026

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MediFind found 31 doctor with experience in Mucolipidosis Type 4 near The United States. Of these, 17 are Experienced, 8 are Advanced, 4 are Distinguished and 2 are Elite.

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31 providers found
    Elite in Mucolipidosis Type 4
    Medical Genetics
    Elite in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required

    Greenwood Genetic Center– Charleston

    3520 West Montague Avenue, 
    Charleston, SC 
    Languages Spoken:
    English
    Accepting New Patients

    Sara Cathey is a Medical Genetics provider practicing medicine in Charleston, South Carolina. Dr. Cathey is rated as an Elite provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Aspartylglucosaminuria, Mucolipidosis Type 4, Sialidosis, and Mucolipidosis 3. Dr. Cathey is currently accepting new patients.

    Elite in Mucolipidosis Type 4
    Medical Genetics
    Elite in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required
    111 Michigan Ave Nw, 
    Washington, DC 
    Languages Spoken:
    English

    Cynthia Tifft is a Medical Genetics provider practicing medicine in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.

    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required
    9300 Valley Childrens Pl # Ge21, 
    Madera, CA 
    Languages Spoken:
    English

    Jaime Barea is a Medical Genetics provider practicing medicine in Madera, California. Dr. Barea is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Mucolipidosis Type 4, Sialidosis, Mucolipidosis 3, and Propionic Acidemia.

    Learn about our expert tiers
    Distinguished in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Distinguished in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required

    Rady Children's Hospital San Diego

    3020 Children's Way, 
    San Diego, CA 
    Languages Spoken:
    English

    Lynne Bird is a Medical Genetics specialist and a Pediatrics provider practicing medicine in San Diego, California. Dr. Bird is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 32 other conditions, according to our data. Her clinical expertise encompasses Angelman Syndrome, Prader-Willi Syndrome, VACTERL Association, Mucolipidosis Type 4, and Gastrostomy.

    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required
    125 Gregor Mendel Cir, 
    Greenwood, SC 
    Languages Spoken:
    English

    Michael Friez is a Medical Genetics provider practicing medicine in Greenwood, South Carolina. Dr. Friez is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Rett Syndrome, Mucolipidosis Type 4, Autism Spectrum Disorder, and Scalp-Ear-Nipple Syndrome.

    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required
    125 Gregor Mendel Cir, 
    Greenwood, SC 
    Languages Spoken:
    English
    Accepting New Patients

    Timothy Wood is a Medical Genetics provider practicing medicine in Greenwood, South Carolina. Dr. Wood is rated as a Distinguished provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Mucolipidosis Type 4, Sialidosis, Mucolipidosis 3, and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome). Dr. Wood is currently accepting new patients.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required
    300 Pasteur Dr, H-315, 
    Stanford, CA 
    Languages Spoken:
    English

    Kristina Cusmano-Ozog is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Stanford, California. Dr. Cusmano-Ozog is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Maple Syrup Urine Disease, Mucolipidosis Type 4, Grix Blankenship Peterson Syndrome, and Micrognathia.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    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 an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. 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.

    Advanced in Mucolipidosis Type 4
    Medical Genetics
    Advanced in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required
    3401 Civic Center Blvd, Division Of Medical Genetics And Genomics, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Xinying Hong is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Hong is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Krabbe Disease, Mucopolysaccharidoses (MPS), Multiple Sulfatase Deficiency, and Lysosomal Acid Lipase Deficiency.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required
    1 Childrens Pl # 3S34, 
    Saint Louis, MO 
    Languages Spoken:
    English

    Parith Wongkittichote is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Saint Louis, Missouri. Dr. Wongkittichote is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Hypotonia, Glutaric Acidemia Type 1, Dihydrolipoamide Dehydrogenase Deficiency, and Multiple Sulfatase Deficiency.

    Advanced in Mucolipidosis Type 4
    Medical Genetics
    Advanced in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required
    202 N Yellowstone Dr, 
    Madison, WI 
    Languages Spoken:
    English

    Richard Pauli is a Medical Genetics provider practicing medicine in Madison, Wisconsin. Dr. Pauli is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, X-Linked Spondyloepiphyseal Dysplasia Tarda, Adenoidectomy, and Myringotomy.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required

    Iu Health Medical Group LLC

    1701 N Senate Ave, 
    Indianapolis, IN 
    Languages Spoken:
    English
    Accepting New Patients

    Erin Conboy is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Indianapolis, Indiana. Dr. Conboy is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 109 other conditions, according to our data. Her clinical expertise encompasses Hereditary Multiple Osteochondromas, Clouston Syndrome, Ectodermal Dysplasias, and Early Infantile Epileptic Encephalopathy. Dr. Conboy is currently accepting new patients.

    Advanced in Mucolipidosis Type 4
    Pediatrics | Medical Genetics
    Advanced in Mucolipidosis Type 4
    Pediatrics | Medical Genetics
    Referral may be required
    300 Longwood Ave, Fegan 10, 
    Boston, MA 
    Languages Spoken:
    English

    Fowzan Alkuraya is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Boston, Massachusetts. Dr. Alkuraya is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 71 other conditions, according to our data. His clinical expertise encompasses Microcephaly, Achalasia Microcephaly Syndrome, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required

    The Association Of Chrmc And University Physicians

    4800 Sand Point Way Ne, 
    Seattle, WA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Michael Bamshad is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Seattle, Washington. Dr. Bamshad is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Distal Arthrogryposis, Distal Arthrogryposis Type 6, Arthrogryposis Multiplex Congenita, and Congenital Contractures. Dr. Bamshad is currently accepting new patients.

    Experienced in Mucolipidosis Type 4
    Medical Genetics
    Experienced in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required

    Greenwood Genetic Center– Greenwood

    106 Gregor Mendel Circle, 
    Greenwood, SC 
    Languages Spoken:
    English
    Accepting New Patients

    Roger Stevenson is a Medical Genetics provider practicing medicine in Greenwood, South Carolina. Dr. Stevenson is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses VACTERL Association, Micrognathia, FG Syndrome, and Phocomelia. Dr. Stevenson is currently accepting new patients.

    Experienced in Mucolipidosis Type 4
    Pediatrics | Medical Genetics
    Experienced in Mucolipidosis Type 4
    Pediatrics | Medical Genetics
    Referral may be required

    M Health Fairview Explorer Pediatric Specialty Clinic

    12th Flr, East Bld 2450 Riverside Ave, 
    Minneapolis, MN 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Chester Whitley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Minneapolis, Minnesota. Dr. Whitley is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 33 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A), and Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome). Dr. Whitley is board certified in Clinical Genetics And Genomics: American Board Of Medical Genetics And Genomics, 1984 and Clinical Biochemical Genetics: American Board Of Medical Genetics And Genomics, 1984. Dr. Whitley is currently accepting new patients.

    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required

    UC Irvine Medical Center

    101 The City Drive South, Building 30, 
    Orange, CA 
    Languages Spoken:
    English, Greek, Hindi

    Virginia Kimonis is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Orange, California. Dr. Kimonis is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

    Experienced in Mucolipidosis Type 4
    Medical Genetics
    Experienced in Mucolipidosis Type 4
    Medical Genetics
    Referral may be required

    GMC Laboratory Medicine

    100 North Academy Avenue, 
    Danville, PA 
    Languages Spoken:
    English
    Accepting New Patients

    Jialing Huang is a Medical Genetics provider practicing medicine in Danville, Pennsylvania. Dr. Huang is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. His clinical expertise encompasses Microvillus Inclusion Disease, Chromosome 13q Duplication, Trisomy 13, and Sialidosis. Dr. Huang is currently accepting new patients.

    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required
    725 Irving Ave, Suite 110, 
    Syracuse, NY 
    Languages Spoken:
    English

    Robert Lebel is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Syracuse, New York. Dr. Lebel is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Crouzon Syndrome, Imperforate Anus, Micrognathia, and Hypotonia.

    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Referral may be required
    10 Center Drive Msc 1851, Bldg. 10, Room 10c-103, Nhgri, Nih, 
    Bethesda, MD 
    Languages Spoken:
    English

    William Gahl is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Bethesda, Maryland. Dr. Gahl is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

    Showing 1-20 of 31

    Last Updated: 11/08/2026

    What is the definition of Mucolipidosis Type 4?

    Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with Mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay and visual impairment. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical Mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes in the MCOLN1 gene and is inherited in an autosomal recessive manner.

    When should I see a Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 doctor search results page. 

    Why is it important to get a second opinion from a different Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 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 Mucolipidosis Type 4 doctors in The United States?

    Look for the filter feature on the left side of the Mucolipidosis Type 4 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 Mucolipidosis Type 4 doctor that offers video calls?

    Look for the filter feature on the left-side of the Mucolipidosis Type 4 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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