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    Last Updated: 10/30/2025

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    MediFind found 2 doctor with experience in Homocystinuria due to MTHFR Deficiency near Australia. Of these, 2 are Experienced.

    Location
    LocationClose
    2 providers found
      Experienced in Homocystinuria due to MTHFR Deficiency

      Estelle Sontag
      Experienced in Homocystinuria due to MTHFR Deficiency

      Estelle Sontag
      University Drive, 
      Callaghan, NSW, AU 

      Estelle Sontag practices in Callaghan, Australia. Ms. Sontag is rated as an Experienced expert by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. Her top areas of expertise are Folate Deficiency, Alzheimer's Disease, Dementia, and Homocystinuria due to MTHFR Deficiency.

      Experienced in Homocystinuria due to MTHFR Deficiency

      Jean-marie Sontag
      Experienced in Homocystinuria due to MTHFR Deficiency

      Jean-marie Sontag
      New Lambton Heights, NSW, AU 

      Jean-marie Sontag practices in New Lambton Heights, Australia. Ms. Sontag is rated as an Experienced expert by MediFind in the treatment of Homocystinuria due to MTHFR Deficiency. Her top areas of expertise are Folate Deficiency, Homocystinuria due to MTHFR Deficiency, Alzheimer's Disease, and Dementia.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Learn about our expert tiers
      While we make every effort to provide the best results possible, data is currently limited outside of the United States. Doctors listed may include both clinicians and researchers, and individuals relocate frequently. We recommend contacting doctors directly to confirm their location and areas of focus. Contact information is provided when available. Learn more about our expert tiers.
      Showing 1-2 of 2

      Last Updated: 10/30/2025

      What is the definition of Homocystinuria due to MTHFR Deficiency?

      Homocystinuria due to MTHFR deficiency is a genetic condition that results from poor metabolism of folate (also called vitamin B9), due to a lack of working enzyme called MTHFR. The gene that tells our body how to make the enzyme is also called MTHFR. At least 40 rare MTHFR gene variants have been found in people with decreased or no working enzyme. Very common gene variants (C677T and A1298C) can cause some decrease in enzyme function. People with Homocystinuria due to MTHFR deficiency tend to have two rare variants or sometimes a rare variant and a common variant. Very rarely people inherit a combination of three or four common variants from their parents (for example two C677T variants and two A1298C variants) and may also develop very high levels of homocystine in their body. Homocystinuria usually does not show symptoms in a newborn baby. Symptoms may include abnormal clotting, developmental delay, seizures, intellectual disability, and microcephaly. Severe homocystinuria can also be caused by gene variants in other genes besides MTHFR.

      When should I see a Homocystinuria due to MTHFR Deficiency doctor in Australia?

      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 Homocystinuria due to MTHFR Deficiency doctor in Australia?

      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 do I find the best Homocystinuria due to MTHFR Deficiency doctor in Australia?

      You can find a Homocystinuria due to MTHFR Deficiency doctor in any of the 10 largest U.S. cities by clicking below:

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      Homocystinuria due to MTHFR Deficiency doctor near Phoenix, AZ
      Homocystinuria due to MTHFR Deficiency doctor near Philadelphia, PA
      Homocystinuria due to MTHFR Deficiency doctor near Atlanta, GA
      Homocystinuria due to MTHFR Deficiency doctor near Boston, MA
      Homocystinuria due to MTHFR Deficiency doctor near Dallas, TX
      Homocystinuria due to MTHFR Deficiency doctor near San Jose, CA

      How does MediFind rank Homocystinuria due to MTHFR Deficiency doctors in Australia?

      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 Homocystinuria due to MTHFR Deficiency doctors in Australia?

      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 Homocystinuria due to MTHFR Deficiency doctor in Australia?

      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 Homocystinuria due to MTHFR Deficiency doctor search results page. 

      Why is it important to get a second opinion from a different Homocystinuria due to MTHFR 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 Homocystinuria due to MTHFR Deficiency doctor in Australia?

      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 Homocystinuria due to MTHFR 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 Homocystinuria due to MTHFR 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 Homocystinuria due to MTHFR Deficiency doctors in Australia?

      Look for the filter feature on the left side of the Homocystinuria due to MTHFR 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 Homocystinuria due to MTHFR Deficiency doctor that offers video calls?

      Look for the filter feature on the left-side of the Homocystinuria due to MTHFR 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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