The 20 Best Mucolipidosis Type 4 Doctors in The United States

Find the Top Mucolipidosis Type 4 Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 32 doctor with experience in Mucolipidosis Type 4 near The United States. Of these, 17 are Experienced, 9 are Advanced, 4 are Distinguished and 2 are Elite.

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32 providers found
    Elite in Mucolipidosis Type 4
    Medical Genetics
    Elite in Mucolipidosis Type 4
    Medical Genetics

    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, Fucosidosis, and Sialidosis. Dr. Cathey is currently accepting new patients.

    Elite in Mucolipidosis Type 4
    Medical Genetics
    Elite in Mucolipidosis Type 4
    Medical Genetics
    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 11 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
    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
    7920 Frost St, Ste 200, 
    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 29 other conditions, according to our data. Her clinical expertise encompasses Angelman Syndrome, Prader-Willi Syndrome, VACTERL Association, and Mucolipidosis Type 4.

    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    Distinguished in Mucolipidosis Type 4
    Medical Genetics
    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 13 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
    125 Gregor Mendel Cir, 
    Greenwood, SC 
    Languages Spoken:
    English

    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 3 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).

    Experienced in Mucolipidosis Type 4
    Medical Genetics
    Experienced in Mucolipidosis Type 4
    Medical Genetics

    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, Phocomelia, and FG Syndrome. Dr. Stevenson is currently accepting new patients.

    Experienced in Mucolipidosis Type 4
    Ophthalmology
    Experienced in Mucolipidosis Type 4
    Ophthalmology

    Howard County Medical Pavilion

    10710 Charter Drive, Suite 310, Suite 310, 
    Columbia, MD 
    Languages Spoken:
    English
    Offers Telehealth

    Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Epicanthal Folds, Strabismus, Hypotonia, and Brown Syndrome. Dr. Couser is board certified in American Board Of Medical Genetics And Genomics and American Board Of Ophthalmology.

    Experienced in Mucolipidosis Type 4
    Medical Genetics
    Experienced in Mucolipidosis Type 4
    Medical Genetics

    Cohen Children's Northwell Health Physician Partners Medical Genetics

    225 Community Drive, Suite 110, 
    Great Neck, NY 
    Languages Spoken:
    English

    Dr. Ian Daniel Krantz, MD, is a renowned physician specializing in Genetics and Pediatrics. He currently sees patients at Cohen Children's Medical Center (CCMC) and Northwell Health Physician Partners Medical Genetics. Dr. Krantz holds certifications in Clinical Genetics, Cytogenetics, and Pediatrics from the American Board of Medical Genetics and the American Board of Pediatrics, respectively.Dr. Krantz completed his BFA at Concordia University in Montreal and his MD at Sackler School of Medicine (Tel Aviv University). He completed his residency in Medical Genetics at Children's Hospital of Philadelphia and his residency in Pediatrics at New York University Medical Center.With an impressive set of academic and administrative titles, Dr. Krantz serves as the Division Chief of Pediatric Genetics and Genomics at Cohen Children's Medical Center and is the System Vice President for Pediatric Genetics at Northwell Health. Additionally, he holds the position of Professor at the Zucker School of Medicine at Northwell Health.Dr. Krantz is recognized for his clinical expertise in isolated and syndromic forms of congenital birth differences and developmental diagnoses, including syndromic and non-syndromic autism. He has a special interest in the genetics of hearing loss and focused expertise in Cornelia de Lange Syndrome, Pallister-Killian syndrome, Alagille syndrome, CHOPS syndrome, among others.Dr. Krantz's research is dedicated to identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental diagnoses. His research lab has made significant contributions in the field, discovering new disease genes and shedding light on critical molecular pathways involved in human developmental disorders.Driven by his commitment to advancing patient care, Dr. Krantz has been at the forefront of integrating genomic technologies into the clinical setting. He has implemented rapid genome sequencing into the NICU and CICU and established biobanks and biorepositories to further research efforts. Through his work, he aims to understand the impact of complex diagnostic information on clinicians and families involved.With his extensive expertise and dedication to advancing genetic research and patient care, Dr. Krantz continues to make significant contributions to the field of Pediatrics and Genetics. Dr. Krantz is rated as an Experienced 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 Cornelia De Lange Syndrome, Pallister-Killian Mosaic Syndrome, Mosaicism, and KBG Syndrome.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    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 7 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
    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 13 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
    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 9 other conditions, according to our data. Her clinical expertise encompasses Krabbe Disease, Leukodystrophy, Multiple Sulfatase Deficiency, and Mucolipidosis Type 4.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    3401 Civic Center Blvd, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Parith Wongkittichote is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. 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, Dihydrolipoamide Dehydrogenase Deficiency, Glutaric Acidemia Type 1, and Multiple Sulfatase Deficiency.

    Advanced in Mucolipidosis Type 4
    Medical Genetics
    Advanced in Mucolipidosis Type 4
    Medical Genetics
    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

    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 110 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
    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 72 other conditions, according to our data. His clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Early Infantile Epileptic Encephalopathy, Cortical Dysplasia, and Vitrectomy.

    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Advanced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics

    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 24 other conditions, according to our data. His clinical expertise encompasses Distal Arthrogryposis Type 6, Distal Arthrogryposis, Polydactyly, and Congenital Contractures. Dr. Bamshad is currently accepting new patients.

    Advanced in Mucolipidosis Type 4
    Advanced in Mucolipidosis Type 4

    Office

    4000 Essex Ln Apt 5311, 
    Houston, TX 
    Languages Spoken:
    English

    Benjamin Ellezam practices practicing medicine in Houston, Texas. Dr. Ellezam is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Myositis, Necrotizing Myopathy (NM), Gliomatosis Cerebri, and Glioma.

    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    Experienced in Mucolipidosis Type 4
    Medical Genetics | Pediatrics
    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
    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 30 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 32

    Last Updated: 04/28/2026

    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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