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    Last Updated: 01/09/2026

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    MediFind found 172 doctor with experience in Maple Syrup Urine Disease near The United States. Of these, 119 are Experienced, 45 are Advanced and 8 are Distinguished.

    Location
    LocationClose
    172 providers found
      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.

      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
      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.

      Learn about our expert tiers
      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
      Medical Genetics | Pediatrics
      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics

      Lurie Children's Medical Group Inc.

      225 E Chicago Ave, 
      Chicago, IL 
      Languages Spoken:
      English

      Joel Charrow is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Charrow is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Gaucher Disease Type 1, Gaucher Disease, Achondroplasia, Isovaleric Acidemia, and Splenectomy.

      Distinguished in Maple Syrup Urine Disease
      Pediatrics | Medical Genetics
      Distinguished in Maple Syrup Urine Disease
      Pediatrics | Medical Genetics
      34th & Civic Center Boulevard, 9nw55, Chop-pediatrics/medical Genetics Residency Program, 
      Philadelphia, PA 
      Languages Spoken:
      English

      Rebecca Ahrens-Nicklas is a Pediatrics specialist and a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Ahrens-Nicklas is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Multiple Sulfatase Deficiency, Cardiomyopathic Lentiginosis, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, and Noonan Syndrome.

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

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Gregory Enns is a Pediatrics specialist and a Medical Genetics provider in Palo Alto, California. Dr. Enns 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), Methylmalonic Acidemia, Arginase Deficiency, and Cholesteryl Ester Storage Disease. Dr. Enns is currently accepting new patients.

      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics
      Distinguished in Maple Syrup Urine Disease
      Medical Genetics | Pediatrics
      225 E Chicago Ave # 59, 
      Chicago, IL 
      Languages Spoken:
      English

      Carlos Prada is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Prada is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are RASopathies, Smith-Kingsmore Syndrome, Neurofibromatosis, and Neurofibromatosis Type 1 (NF1).

      Distinguished in Maple Syrup Urine Disease
      Pediatric Neurology | Neurology | Pediatrics
      Distinguished in Maple Syrup Urine Disease
      Pediatric Neurology | Neurology | Pediatrics
      262 Danny Thomas Pl, 
      Memphis, TN 
      Languages Spoken:
      English

      Andrea Gropman is a Pediatric Neurologist and a Neurologist in Memphis, Tennessee. Dr. Gropman is rated as a Distinguished provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Klinefelter Syndrome, Urea Cycle Disorders (UCD), MELAS Syndrome, Ornithine Transcarbamylase Deficiency, and Hormone Replacement Therapy (HRT).

      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).

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

      Lurie Children's Medical Group Inc.

      225 E Chicago Ave, 
      Chicago, IL 
      Languages Spoken:
      English

      Joshua Baker is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Baker is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Urea Cycle Disorders (UCD), Acid Sphingomyelinase Deficiency (ASMD), and Propionic Acidemia.

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

      Regents Of The University Of Michigan

      1105 6th St, 
      Traverse City, MI 
      Languages Spoken:
      English, Urdu
      Accepting New Patients

      Ayesha Ahmad is a Medical Genetics specialist and a Pediatrics provider in Traverse City, Michigan. Dr. Ahmad is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Pompe Disease, Propionic Acidemia, Von Gierke Disease, and Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome). Dr. Ahmad is currently accepting new patients.

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

      The General Hospital Corporation

      55 Fruit St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Inderneel Sahai is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sahai is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Maple Syrup Urine Disease, Phenylketonuria (PKU), Increased Head Circumference, and Urea Cycle Disorders (UCD). Dr. Sahai is currently accepting new patients.

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

      Regents Of The University Of Michigan

      1500 E Medical Ctr Dr, 
      Ann Arbor, MI 
      Languages Spoken:
      English

      Shane Quinonez is a Medical Genetics specialist and a Pediatrics provider in Ann Arbor, Michigan. Dr. Quinonez is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Pompe Disease, Dihydrolipoamide Dehydrogenase Deficiency, MELAS Syndrome, and Maple Syrup Urine Disease.

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

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
      Experience:
      18+ years
      Languages Spoken:
      English
      Offers Telehealth

      Chung Lee is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Lee has been practicing medicine for over 18 years and is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Maple Syrup Urine Disease, and Carnitine Palmitoyltransferase 2 Deficiency.

      Advanced in Maple Syrup Urine Disease
      Advanced in Maple Syrup Urine Disease

      Yale University

      1 Long Wharf Dr, Suite 503, 
      New Haven, CT 
      Languages Spoken:
      English
      Accepting New Patients

      Michele Spencer-Manzon is a Medical Genetics provider in New Haven, Connecticut. Dr. Spencer-Manzon is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Maple Syrup Urine Disease, Tyrosinemia Type 2, Tyrosinemia Type 1, and Tyrosinemia Type 3. Dr. Spencer-Manzon is currently accepting new patients.

      Advanced in Maple Syrup Urine Disease
      Pediatrics | Medical Genetics | Oncology
      Advanced in Maple Syrup Urine Disease
      Pediatrics | Medical Genetics | Oncology
      2000 Health Park Dr, 
      Brentwood, TN 
      Languages Spoken:
      English, Polish, Spanish

      Peter Leahy is a Pediatrics specialist and a Medical Genetics provider in Brentwood, Tennessee. Dr. Leahy is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Maple Syrup Urine Disease, Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency, Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, and Beta-Ketothiolase Deficiency.

      Advanced in Maple Syrup Urine Disease
      Pediatrics | Medical Genetics
      Advanced in Maple Syrup Urine Disease
      Pediatrics | Medical Genetics
      5323 Harry Hines Blvd, 
      Dallas, TX 
      Languages Spoken:
      English

      Luis Umana is a Pediatrics specialist and a Medical Genetics provider in Dallas, Texas. Dr. Umana is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Classic Galactosemia, Biotinidase Deficiency, and Argininosuccinic Aciduria.

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

      Icahn School Of Medicine At Mount Sinai

      1428 Madison Ave, 
      New York, NY 
      Languages Spoken:
      English
      Offers Telehealth

      Jaya Ganesh is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Ganesh is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. Her top areas of expertise are Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease, Pompe Disease, and Fabry Disease.

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

      Gundersen Lutheran Medical Center Inc

      1836 S Ave, 
      La Crosse, WI 
      Languages Spoken:
      English
      Accepting New Patients

      Gregory Rice is a Medical Genetics specialist and a Pediatrics provider in La Crosse, Wisconsin. Dr. Rice is rated as an Advanced provider by MediFind in the treatment of Maple Syrup Urine Disease. His top areas of expertise are Biotinidase Deficiency, Maple Syrup Urine Disease, Phenylketonuria (PKU), Inborn Amino Acid Metabolism Disorder, and Adenoidectomy. Dr. Rice is currently accepting new patients.

      Showing 1-20 of 172

      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 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 Maple Syrup Urine Disease 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 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 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 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 in The United States?

      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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