The 20 Best Dihydropteridine Reductase Deficiency Doctors Near Me in New York, NY

Find the Top Dihydropteridine Reductase Deficiency Experts and Specialists

Last Updated: 09/19/2026

Save doctors for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Already have a doctor?
Find A Second Opinion

MediFind found 14 doctor with experience in Dihydropteridine Reductase Deficiency near New York, NY. Of these, 7 are Advanced and 7 are Experienced.

Location
LocationClose
14 providers found
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Albany Medical College

    47 New Scotland Ave, 
    Albany, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Carlos Mares-Beltran is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Albany, New York. Dr. Mares-Beltran is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 30 other conditions, according to our data. His clinical expertise encompasses Mucolipidosis 3, Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Chromosome 11 Uniparental Disomy.

    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Icahn School Of Medicine At Mount Sinai

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

    Margo Breilyn is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New York, New York. Dr. Breilyn is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 42 other conditions, according to our data. Her clinical expertise encompasses 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
    Referral may be required

    Icahn School Of Medicine At Mount Sinai

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

    Mary Lopiccolo is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New York, New York. Dr. Lopiccolo is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Glutaric Acidemia Type 2, Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, and Carnitine Palmitoyltransferase 2 Deficiency.

    Learn about our expert tiers
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required
    One Gustave Levy L. Place #1497, 
    New York, NY 
    Languages Spoken:
    English

    George Diaz is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New York, New York. Dr. Diaz is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Argininosuccinic Aciduria, Urea Cycle Disorders (UCD), and Ornithine Transcarbamylase Deficiency.

    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Albany Medical College

    47 New Scotland Ave, 
    Albany, NY 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Mj Hajianpour is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Albany, New York. Dr. Hajianpour is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Polysyndactyly Cardiac Malformation, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Hajianpour is currently accepting new patients.

    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Stony Brook Children's Service, University Faculty Practice Corporatio

    2701 Sunrise Hwy, 
    Islip Terrace, NY 
    Languages Spoken:
    English

    Patricia Galvin-Parton is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Islip Terrace, New York. Dr. Galvin-Parton is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Krabbe Disease, Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency.

    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Advanced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Regional Program For Prentatal Detection

    601 Elmwood Ave Box, 
    Rochester, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Chin-to Fong is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Rochester, New York. Dr. Fong is rated as an Advanced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Ehlers-Danlos Syndrome (EDS), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency.

    Experienced in Dihydropteridine Reductase Deficiency
    Pediatrics | Medical Genetics
    Experienced in Dihydropteridine Reductase Deficiency
    Pediatrics | Medical Genetics
    Referral may be required

    CUIMC/NewYork-Presbyterian Morgan Stanley Children's Hospital

    3959 Broadway, 
    New York, NY 
    Languages Spoken:
    English, Spanish
    Accepting New Patients
    Offers Telehealth

    Alejandro Iglesias is a Pediatrics specialist and a Medical Genetics provider practicing medicine in New York, New York. Dr. Iglesias is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Hypotonia, Microcephaly, Achalasia Microcephaly Syndrome, and Cortical Dysplasia. Dr. Iglesias is board certified in Pediatrics, Clinical Genetics And Genomics (MD), and Clinical Biochemical Genetics. Dr. Iglesias is currently accepting new patients.

    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Pediatric Service Group

    750 E Adams St, 
    Syracuse, NY 
    Languages Spoken:
    English

    Joan Pellegrino is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Syracuse, New York. Dr. Pellegrino is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Krabbe Disease, Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Multiple Sulfatase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Westchester Medical Center Advanced Physician Services PC

    100 Woods Rd, 
    Valhalla, NY 
    Languages Spoken:
    English

    David Kronn is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Valhalla, New York. Dr. Kronn is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Pompe Disease, Phenylketonuria (PKU), Krabbe Disease, and Gaucher Disease Type 3.

    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Trustees Of Columbia University In The City Of New York

    622 W 168th St, 
    New York, NY 
    Languages Spoken:
    English
    Offers Telehealth

    Jose Morales-Corado is a Medical Genetics specialist and a Pediatrics provider practicing medicine in New York, New York. Dr. Morales-Corado is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His clinical expertise encompasses Distal Arthrogryposis Type 6, Distal Arthrogryposis, Dihydropteridine Reductase Deficiency, and Maternal Hyperphenylalaninemia.

    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Hematology | Hematology Oncology
    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics | Hematology | Hematology Oncology
    Referral may be required

    Regional Program For Prentatal Detection

    601 Elmwood Ave, 
    Rochester, NY 
    Languages Spoken:
    English

    Eran Tallis is a Medical Genetics specialist and a Hematologist practicing medicine in Rochester, New York. Dr. Tallis is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His clinical expertise encompasses Phenylketonuria (PKU), Dihydropteridine Reductase Deficiency, Maternal Hyperphenylalaninemia, Leukemia, and Bone Marrow Transplant.

    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics
    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics
    Referral may be required
    1001 Main St Fl 4, 
    Buffalo, NY 
    Languages Spoken:
    English

    Taosheng Huang is a Medical Genetics provider practicing medicine in Buffalo, New York. Dr. Huang is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. His clinical expertise encompasses Fabry Disease, Retinopathy Pigmentary Mental Retardation, Multiple Sulfatase Deficiency, and Megalencephalic Leukoencephalopathy with Subcortical Cysts.

    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics
    Experienced in Dihydropteridine Reductase Deficiency
    Medical Genetics
    Referral may be required

    Icahn School Of Medicine At Mount Sinai

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

    Eva Morava-Kozicz is a Medical Genetics provider practicing medicine in New York, New York. Dr. Morava-Kozicz is rated as an Experienced provider by MediFind in the treatment of Dihydropteridine Reductase Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses MELAS Syndrome, Adrenal Insufficiency Pediatric, Phenylketonuria (PKU), and Glutaric Acidemia Type 1.

    Showing 1-14 of 14

    Last Updated: 09/19/2026

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 New York, NY?

    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 

    Read more about our Content Policy. 

    More Dihydropteridine Reductase Deficiency Doctors by city