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    Last Updated: 02/22/2026

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    MediFind found 223 doctor with experience in Dihydropteridine Reductase Deficiency. Of these, 115 are Experienced, 107 are Advanced and 1 are Distinguished.

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    LocationClose
    223 providers found
      Advanced in Dihydropteridine Reductase Deficiency
      Advanced in Dihydropteridine Reductase Deficiency

      ETSU Physicians & Associates- Pediatrics

      325 N State Of Franklin Rd, 
      Johnson City, TN 
      Languages Spoken:
      English

      . Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

      William Wilcox
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics
      Advanced in Dihydropteridine Reductase Deficiency
      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 Dihydropteridine Reductase Deficiency. His top areas of expertise are Fabry Disease, Achondroplasia, Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

      Experienced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics
      Experienced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics

      State University Of Iowa

      200 Hawkins Dr, 
      Iowa City, IA 
      Languages Spoken:
      English, French
      Accepting New Patients

      Amy Calhoun is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Calhoun is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Wolf-Hirschhorn Syndrome, Otospondylomegaepiphyseal Dysplasia, MELAS Syndrome, and Costello Syndrome. Dr. Calhoun is currently accepting new patients.

      Learn about our expert tiers
      Distinguished in Dihydropteridine Reductase Deficiency
      Distinguished in Dihydropteridine Reductase Deficiency
      Okayama, JP 

      Mahoko Furujo practices in Okayama, Japan. Furujo is rated as a Distinguished expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Their top areas of expertise are Dihydropteridine Reductase Deficiency, Hypermethioninemia, Gaucher Disease Type 2, and Mucopolysaccharidoses (MPS).

      Advanced in Dihydropteridine Reductase Deficiency
      Advanced in Dihydropteridine Reductase Deficiency

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English

      Amy Kritzer is a Pediatrics provider in Boston, Massachusetts. Dr. Kritzer is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A).

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics

      UT Southwestern - Pediatrics

      5323 Harry Hines Blvd, 
      Dallas, TX 
      Languages Spoken:
      English, Spanish

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

      Advanced in Dihydropteridine Reductase Deficiency
      Internal Medicine | Endocrinology
      Advanced in Dihydropteridine Reductase Deficiency
      Internal Medicine | Endocrinology

      UT Southwestern - Internal Medicine Subspecialties

      2001 Inwood Rd, 8th Fl, 
      Dallas, TX 
      Languages Spoken:
      English
      Offers Telehealth

      Markey Mcnutt is an Internal Medicine specialist and an Endocrinologist in Dallas, Texas. Dr. Mcnutt is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Ornithine Transcarbamylase Deficiency, Ornithine Translocase Deficiency, Phenylketonuria (PKU), and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics

      UC Davis Medical Center MIND Institute

      2825 50th St, 
      Sacramento, CA 
      Languages Spoken:
      English
      Accepting New Patients

      Madelena Martin is a Medical Genetics specialist and a Pediatrics provider in Sacramento, California. Dr. Martin is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Pompe Disease, Danon Disease, Phenylketonuria (PKU), and Fabry Disease. Dr. Martin is currently accepting new patients.

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics

      Emory Clinic At 1365 Clifton Road

      1365 Clifton Road Northeast, BldgB, 
      Atlanta, GA 
      Experience:
      32+ years
      Languages Spoken:
      English, Mandarin
      Offers Telehealth

      Hong Li is a Medical Genetics provider in Atlanta, Georgia. Dr. Li has been practicing medicine for over 32 years and is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Beta-Ketothiolase Deficiency.

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics

      UT Southwestern - Pediatric Genetics

      1935 Medical District Dr, 
      Dallas, TX 
      Languages Spoken:
      English, Spanish

      Laura Mackay is a Medical Genetics provider in Dallas, Texas. Dr. Mackay is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).

      Gerald V. Raymond
      Experienced in Dihydropteridine Reductase Deficiency
      Pediatrics | Medical Genetics
      Experienced in Dihydropteridine Reductase Deficiency
      Pediatrics | Medical Genetics

      Rubenstein Child Health Building

      Baltimore, MD 
      Languages Spoken:
      English

      Dr. Gerald Raymond is a clinical geneticist and neurologist at Johns Hopkins where he is also a professor of genetic medicine and neurology. He obtained his MD at the University of Connecticut and was trained in Pediatrics at Johns Hopkins Hospital and Neurology at the Mass. General Hospital. He received additional training in developmental neuropathology at the Universite Catholique de Louvain in Belgium and clinical genetics at the Harvard Program. Dr. Raymond’s research has been at the overlap of genetics and neurology with specific focus on peroxisomal disorders including adrenoleukodystrophy. He has been actively involved in newborn screening for ALD and in developing clinical follow-up programs. He has extensive experience in clinical management of neurogenetic issues including peroxisomal and lysosomal disorders. He presently serves as the Director of the Lysosomal Storage Disease program in the department of Genetic Medicine. Dr. Raymond is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Adrenoleukodystrophy (ALD), Leukodystrophy, Pelizaeus-Merzbacher Disease, and Alexander Disease.

      Richard J. Schroer
      Experienced in Dihydropteridine Reductase Deficiency
      Medical Genetics
      Experienced in Dihydropteridine Reductase Deficiency
      Medical Genetics

      Greenwood Genetic Center– Charleston

      3520 West Montague Avenue, 
      Charleston, SC 
      Languages Spoken:
      English
      Accepting New Patients

      Richard Schroer is a Medical Genetics provider in Charleston, South Carolina. Dr. Schroer is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Chromosome 2p Duplication, Propionic Acidemia, Phenylketonuria (PKU), and 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency. Dr. Schroer is currently accepting new patients.

      Darius J. Adams
      Experienced in Dihydropteridine Reductase Deficiency
      Medical Genetics
      Experienced in Dihydropteridine Reductase Deficiency
      Medical Genetics

      Darius Adams, MD

      101 Madison Avenue, Suite 201, 
      Morristown, NJ 
      Languages Spoken:
      English
      Accepting New Patients

      Darius Adams is a Medical Genetics provider in Morristown, New Jersey. Dr. Adams is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Glycogen Storage Disease Type 3, Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome), and Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome). Dr. Adams is currently accepting new patients.

      Angelo Avogaro
      Advanced in Dihydropteridine Reductase Deficiency
      Advanced in Dihydropteridine Reductase Deficiency
      Padova, IT 

      Angelo Avogaro practices in Padova, Italy. Mr. Avogaro is rated as an Advanced expert by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Type 2 Diabetes (T2D), Maturity Onset Diabetes of the Young, Low Blood Sugar, and Type 1 Diabetes (T1D).

      Experienced in Dihydropteridine Reductase Deficiency
      Experienced in Dihydropteridine Reductase Deficiency

      Emory Clinic At 1365 Clifton Road

      1365 Clifton Road Northeast, BldgB, 
      Atlanta, GA 
      Experience:
      19+ years
      Languages Spoken:
      English, Spanish
      Offers Telehealth

      Rossana Russo is a Pediatrics provider in Atlanta, Georgia. Dr. Russo has been practicing medicine for over 19 years and is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Frontometaphyseal Dysplasia, Phenylketonuria (PKU), Genital Dwarfism, and Arginase Deficiency.

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics

      Albany Medical College

      22 New Scotland Ave, 
      Albany, NY 
      Languages Spoken:
      English

      Carlos Mares-Beltran is a Medical Genetics specialist and a Pediatrics provider in Albany, New York. Dr. Mares-Beltran is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Mucolipidosis 3, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Chromosome 6 Uniparental Disomy.

      Advanced in Dihydropteridine Reductase Deficiency
      Pediatrics | Medical Genetics
      Advanced in Dihydropteridine Reductase Deficiency
      Pediatrics | Medical Genetics

      Fairview Express Care

      2450 Riverside Ave, 
      Minneapolis, MN 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Chester Whitley is a Pediatrics specialist and a Medical Genetics provider in Minneapolis, Minnesota. Dr. Whitley is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Mucopolysaccharidosis Type 3 (MPS III, Sanfilippo Syndrome), and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A). Dr. Whitley is currently accepting new patients.

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics

      Icahn School Of Medicine At Mount Sinai

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

      Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider in New York, New York. Dr. Breilyn is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Urea Cycle Disorders (UCD), Ornithine Transcarbamylase Deficiency, Short-Chain Acyl-CoA Dehydrogenase Deficiency, and Phenylketonuria (PKU).

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics | Pediatrics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sacharow is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics
      Advanced in Dihydropteridine Reductase Deficiency
      Medical Genetics

      USC Care Medical Group Inc

      1500 San Pablo St, 
      Los Angeles, CA 
      Languages Spoken:
      English

      Shoji Yano is a Medical Genetics provider in Los Angeles, California. Dr. Yano is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His top areas of expertise are Phenylketonuria (PKU), Infantile Refsum Disease, Methylmalonic Acidemia, and Maternal Hyperphenylalaninemia.

      Showing 1-20 of 223

      Last Updated: 02/22/2026

      What is the definition of Dihydropteridine Reductase Deficiency?

      Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. If little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. This results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. DHPR deficiency is caused by genetic changes in the QDPR gene. It is inherited in an autosomal recessive manner.

      When should I see a Dihydropteridine Reductase Deficiency 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 Dihydropteridine Reductase Deficiency 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 Dihydropteridine Reductase Deficiency 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 Dihydropteridine Reductase Deficiency 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 Dihydropteridine Reductase Deficiency 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 Dihydropteridine Reductase Deficiency doctor search results page. 

      Why is it important to get a second opinion from a different Dihydropteridine Reductase 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 Dihydropteridine Reductase Deficiency 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 Dihydropteridine Reductase 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 Dihydropteridine Reductase 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 Dihydropteridine Reductase Deficiency doctors near me?

      Look for the filter feature on the left side of the Dihydropteridine Reductase 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 Dihydropteridine Reductase Deficiency doctor that offers video calls?

      Look for the filter feature on the left-side of the Dihydropteridine Reductase 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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