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    Last Updated: 01/09/2026

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    MediFind found 1216 doctor with experience in Maple Syrup Urine Disease. Of these, 935 are Experienced, 237 are Advanced, 42 are Distinguished and 2 are Elite.

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    LocationClose
    1,216 providers found
      Elite in Maple Syrup Urine Disease
      Elite in Maple Syrup Urine Disease
      Porto Alegre, RS, BR 

      Ida Schwartz practices in Porto Alegre, Brazil. Ms. Schwartz is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Sialidosis, Mucolipidosis Type 4, Mucolipidosis 3, and Liver Transplant.

      Elite in Maple Syrup Urine Disease
      Elite in Maple Syrup Urine Disease
      Criciuma, SC, BR 

      Leticia Wessler practices in Criciuma, Brazil. Ms. Wessler is rated as an Elite expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top area of expertise is Maple Syrup Urine Disease.

      Ada Hamosh
      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics
      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics

      Rubenstein Child Health Building

      200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Ada Hamosh is the Dr. Frank V. Sutland Professor of Pediatric Genetics in the Departments of Genetic Medicine and Pediatrics. Since 2002, she has served as clinical director of the McKusick-Nathans Institute of Genetic Medicine, now Department of Genetic Medicine and scientific director of the Online Mendelian Inheritance in Man® (OMIM), a catalog of more than 16,800 human genes and genetic disorders created by Dr. Victor A. McKusick. Her research centers the molecular basis of Mendelian disorders, the integration of genetics into clinical practice and the diagnosis and management of inborn errors of metabolism. Dr. Hamosh earned a bachelor’s degree in biology from Wesleyan University, a medical degree from Georgetown University School of Medicine and a master’s of public health from Johns Hopkins University School of Public Health. She later completed a fellowship in medical and biochemical genetics from the Johns Hopkins School of Medicine, before joining the Johns Hopkins faculty in 1992. Dr. Hamosh began her genetics career focusing on cystic fibrosis, serving as coordinator of the International Cystic Fibrosis Genotype-Phenotype Consortium. She served as chair of the Maryland State Advisory Council for Hereditary & Congenital Disorders from 2001-2009, during which time she also served on the executive committee of the Genetic Counseling Training Program, run by Johns Hopkins University and the National Human Genome Research Institute. Dr. Hamosh has authored more than 128 publications on a variety of topics. In addition, she is a member of 16 professional associations and advisory committees including the American Society of Human Genetics, the Steering Committee of the Global Alliance for Genomics and Health, and the executive board of the Human Genome Organization, of which she will be President from 2023-2025. Dr. Hamosh was recognized in Baltimore magazine as one of the region’s top doctors in 2013, and 2016-2020. Dr. Hamosh is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Methylmalonic Acidemia, Maple Syrup Urine Disease, Ornithine Transcarbamylase Deficiency, Phenylketonuria (PKU), and Deep Brain Stimulation.

      Learn about our expert tiers
      William Wilcox
      Advanced in Maple Syrup Urine Disease
      Medical Genetics
      Advanced in Maple Syrup Urine Disease
      Medical Genetics

      Emory Clinic At 1365 Clifton Road

      1365 Clifton Road Northeast, BldgB, 
      Atlanta, GA 
      Experience:
      38+ years
      Languages Spoken:
      English

      William Wilcox is a Medical Genetics provider in Atlanta, Georgia. Dr. Wilcox has been practicing medicine for over 38 years and is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

      Experienced in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics
      Experienced in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics

      Florida Hospital Medical Group Inc

      2600 Westhall Ln, 
      Maitland, FL 
      Languages Spoken:
      English, Japanese
      Accepting New Patients

      Mari Mori is a Medical Genetics specialist and a Pediatrics provider in Maitland, Florida. Dr. Mori is rated as an Experienced provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Glycogen Storage Disease Type 7, FG Syndrome, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), and Von Gierke Disease. Dr. Mori is currently accepting new patients.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Porto Alegre, RS, BR 

      Caroline Mescka practices in Porto Alegre, Brazil. Ms. Mescka is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Phenylketonuria (PKU), Infant Hyperglycemia, and Primary Carnitine Deficiency.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      La Paz, MD, ES 

      Magdalena Ugarte practices in La Paz, Spain. Ms. Ugarte is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Glycine Encephalopathy, Propionic Acidemia, and Methylmalonic Acidemia.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Criciuma, SC, BR 

      Emilio Streck practices in Criciuma, Brazil. Mr. Streck is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Maple Syrup Urine Disease, Tyrosinemia Type 2, Hereditary Fructose Intolerance, and Memory Loss.

      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics
      Distinguished in Maple Syrup Urine Disease
      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 in Stanford, California. Dr. Cusmano-Ozog is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Mucolipidosis Type 4, Micrognathia, and Grix Blankenship Peterson Syndrome.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Porto Alegre, RS, BR 

      Carmen Vargas practices in Porto Alegre, Brazil. Ms. Vargas is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Glutaric Acidemia Type 1, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, and Bone Marrow Transplant.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Paris, FR 

      Clement Pontoizeau practices in Paris, France. Mr. Pontoizeau is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Maple Syrup Urine Disease, Dihydrolipoamide Dehydrogenase Deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, Lysinuric Protein Intolerance, and Gastrostomy.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Paris, FR 

      Pascale De Lonlay practices in Paris, France. Ms. De Lonlay is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Rhabdomyolysis, Maple Syrup Urine Disease, Argininosuccinic Aciduria, Liver Transplant, and Kidney Transplant.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Madrid, MD, ES 

      Belen Perez practices in Madrid, Spain. Ms. Perez is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are PMM2-Congenital Disorder of Glycosylation, Propionic Acidemia, Maple Syrup Urine Disease, and SRD5A3-CDG.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Rio De Janeiro, RJ, BR 

      Gustavo Ferreira practices in Rio De Janeiro, Brazil. Ferreira is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Their top areas of expertise are Maple Syrup Urine Disease, Tyrosinemia Type 2, Hereditary Fructose Intolerance, and Phenylketonuria (PKU).

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Rio De Janeiro, RJ, BR 

      Patricia Schuck practices in Rio De Janeiro, Brazil. Ms. Schuck is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Tyrosinemia Type 2, Hereditary Fructose Intolerance, and Phenylketonuria (PKU).

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Sao Paulo, SP, BR 

      Irene Miura practices in Sao Paulo, Brazil. Ms. Miura is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Dihydrolipoamide Dehydrogenase Deficiency, Biliary Atresia, Lipidosis with Triglycerid Storage Disease, and Liver Transplant.

      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics
      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics
      111 Michigan Ave Nw, 5th Floor Research, Suite 5700, 
      Washington, DC 
      Languages Spoken:
      English

      Nicholas Ah Mew is a Medical Genetics specialist and a Pediatrics provider in Washington, Washington, D.c.. Dr. Ah Mew is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Urea Cycle Disorders (UCD), Maple Syrup Urine Disease, Argininosuccinic Aciduria, and Propionic Acidemia.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Tokyo, JP 

      Chika Takano practices in Tokyo, Japan. Ms. Takano is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, H Influenzae Meningitis, Rubella, TORCH Syndrome, and Liver Transplant.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Paris, FR 

      Chris Ottolenghi practices in Paris, France. Mr. Ottolenghi is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Maple Syrup Urine Disease, Dihydrolipoamide Dehydrogenase Deficiency, Lysinuric Protein Intolerance, Gastrostomy, and Kidney Transplant.

      Distinguished in Maple Syrup Urine Disease
      Distinguished in Maple Syrup Urine Disease
      Paris, FR 

      Jean-baptiste Arnoux practices in Paris, France. Arnoux is rated as a Distinguished expert by MediFind in the treatment of Maple Syrup Urine Disease. Their top areas of expertise are Argininosuccinic Aciduria, Maple Syrup Urine Disease, Reye Syndrome, Gastrostomy, and Kidney Transplant.

      Showing 1-20 of 1,216

      Last Updated: 01/09/2026

      What is the definition of Maple Syrup Urine Disease?

      Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

      When should I see a Maple Syrup Urine Disease doctor near me?

      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 Maple Syrup Urine Disease doctor near me?

      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 Maple Syrup Urine Disease doctors near me?

      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 Maple Syrup Urine Disease doctors near me?

      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 Maple Syrup Urine Disease doctor near me?

      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 Maple Syrup Urine Disease doctor search results page. 

      Why is it important to get a second opinion from a different Maple Syrup Urine Disease 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 Maple Syrup Urine Disease doctor near me?

      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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease doctors near me?

      Look for the filter feature on the left side of the Maple Syrup Urine Disease 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 Maple Syrup Urine Disease doctor that offers video calls?

      Look for the filter feature on the left-side of the Maple Syrup Urine Disease 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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