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    Last Updated: 06/27/2025

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    MediFind found 4 doctor with experience in Mucolipidosis Type 4 near Maryland, US. Of these, 3 are Experienced and 1 are Advanced.

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    LocationClose
    4 providers found
      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 in Bethesda, Maryland. Dr. Porter and is rated as an Advanced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Niemann-Pick Disease, Reticulohistiocytoma, and X-Linked Creatine Deficiency.

      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 in Bethesda, Maryland. Dr. Gahl and is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Oculocutaneous Albinism Type 2, Hermansky-Pudlak Syndrome, Oculocutaneous Albinism Type 1, Oculocutaneous Albinism, and Deep Brain Stimulation.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Experienced in Mucolipidosis Type 4
      Medical Genetics
      Experienced in Mucolipidosis Type 4
      Medical Genetics
      351a213 Convent Dr, 
      Bethesda, MD 
      Languages Spoken:
      English

      Ellen Sidransky is a Medical Genetics provider in Bethesda, Maryland. Dr. Sidransky and is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Gaucher Disease, Gaucher Disease Type 2, Gaucher Disease Type 3, and Farber Lipogranulomatosis.

      Learn about our expert tiers
      Experienced in Mucolipidosis Type 4
      Ophthalmology | Medical Genetics
      Experienced in Mucolipidosis Type 4
      Ophthalmology | Medical Genetics

      Kennedy Krieger Associates

      707 N Broadway, 
      Baltimore, MD 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Natario Couser is an Ophthalmologist and a Medical Genetics provider in Baltimore, Maryland. Dr. Couser and is rated as an Experienced provider by MediFind in the treatment of Mucolipidosis Type 4. Their top areas of expertise are Epicanthal Folds, Hypotonia, Strabismus, and Brown Syndrome. Dr. Couser is currently accepting new patients.

      Showing 1-4 of 4

      Last Updated: 06/27/2025

      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 Maryland, US?

      There are various reasons why you may want to see a specialist, such as: 

      • Your primary care provider recommends it. 
      • Your condition requires expert knowledge and specialized care. 
      • Your symptoms persist or worsen despite treatment. 
      • You need specialized testing or procedures. 
      • You want a second opinion.  

      What should I consider when choosing a Mucolipidosis Type 4 doctor in Maryland, US?

      It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

      How does MediFind rank Mucolipidosis Type 4 doctors in Maryland, US?

      MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

      What types of insurance are accepted by Mucolipidosis Type 4 doctors in Maryland, US?

      Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

      How can I book an appointment online with a Mucolipidosis Type 4 doctor in Maryland, US?

      MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the 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 Maryland, US?

      Prepare for your appointment by gathering the following items: 

      • Copies of medical records (dating back at least one year) 
      • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
      • Family history of disease 
      • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
      • Allergies to medications, food, latex, insects, etc.  
      • List of questions and concerns 
      • Your insurance card 

      You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

      What questions should I ask my 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 Maryland, US?

      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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