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    Last Updated: 10/30/2025

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    MediFind found 14 doctor with experience in PEPCK 1 Deficiency near Indianapolis, IN. Of these, 10 are Experienced and 4 are Advanced.

    Location
    LocationClose
    14 providers found
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics

      University Family Physicians, Inc.

      550 University Blvd, 
      Indianapolis, IN 
       (1.1 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Melissa Lah is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Lah is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Phenylketonuria (PKU), Prader-Willi Syndrome, Maternal Hyperphenylalaninemia, and Miller-Dieker Syndrome. Dr. Lah is currently accepting new patients.

      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics

      University Family Physicians, Inc.

      550 University Blvd, 
      Indianapolis, IN 
       (1.1 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Erin Conboy is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Conboy is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Hereditary Multiple Osteochondromas, Ectodermal Dysplasias, Clouston Syndrome, and Early Infantile Epileptic Encephalopathy. Dr. Conboy is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Advanced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics

      University Family Physicians, Inc.

      975 W Walnut St, 
      Indianapolis, IN 
       (1.1 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Bryan Hainline is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Hainline is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Phenylketonuria (PKU), Pyruvate Carboxylase Deficiency, Urea Cycle Disorders (UCD), and Inborn Amino Acid Metabolism Disorder. Dr. Hainline is currently accepting new patients.

      Learn about our expert tiers
      Advanced in PEPCK 1 Deficiency
      Pediatrics | Pediatric Neurology | Neurology
      Advanced in PEPCK 1 Deficiency
      Pediatrics | Pediatric Neurology | Neurology
      1701 N Senate Blvd, 
      Indianapolis, IN 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Sarah Delima is a Pediatrics specialist and a Pediatric Neurologist in Indianapolis, Indiana. Dr. Delima is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Seizures, Coach Syndrome, Joubert Syndrome, and Orofaciodigital Syndrome 6. Dr. Delima is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics

      University Family Physicians, Inc.

      550 University Blvd, 
      Indianapolis, IN 
       (1.1 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Molly Mcpheron is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Mcpheron is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Pompe Disease, Danon Disease, Phenylketonuria (PKU), and Maternal Hyperphenylalaninemia. Dr. Mcpheron is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      550 University Blvd, 
      Indianapolis, IN 
       (1.1 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Theodore Wilson is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Wilson is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are EEC Syndrome, Zlotogora-Ogur Syndrome, Clouston Syndrome, and AEC Syndrome. Dr. Wilson is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      550 University Blvd, 
      Indianapolis, IN 
       (1.1 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Gabrielle Geddes is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Geddes is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Costello Syndrome, Hemihyperplasia, RASopathies, Hardikar Syndrome, and Gastrostomy. Dr. Geddes is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      Experienced in PEPCK 1 Deficiency
      Medical Genetics | Pediatrics
      1002 Wishard Blvd, 
      Indianapolis, IN 
       (1.2 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Brett Graham is a Medical Genetics specialist and a Pediatrics provider in Indianapolis, Indiana. Dr. Graham is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are MELAS Syndrome, Mitochondrial Complex 1 Deficiency, Smith-Magenis Syndrome, and Hypotonia. Dr. Graham is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Pediatric Hematology Oncology
      Experienced in PEPCK 1 Deficiency
      Pediatric Hematology Oncology
      705 Riley Hospital Dr, 
      Indianapolis, IN 
       (1.3 miles away)
      Languages Spoken:
      English

      Jessica Seaborn is a Pediatric Hematologist Oncology provider in Indianapolis, Indiana. Dr. Seaborn is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Hereditary Spherocytosis, Paroxysmal Cold Hemoglobinuria, Congenital Hemolytic Anemia, and Hemolytic Anemia.

      Experienced in PEPCK 1 Deficiency
      Nurse Practitioner
      Experienced in PEPCK 1 Deficiency
      Nurse Practitioner
      705 Riley Hospital Dr, 
      Indianapolis, IN 
       (1.3 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Philip Flory is a Nurse Practitioner in Indianapolis, Indiana. Mr. Flory is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Wolf-Hirschhorn Syndrome, Orofaciodigital Syndrome 6, Hydranencephaly, and Bilateral Perisylvian Polymicrogyria. Mr. Flory is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Child and Adolescent Psychiatry
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Child and Adolescent Psychiatry
      705 Riley Hospital Dr, 
      Indianapolis, IN 
       (1.3 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Sarah Wing is a Pediatric Neurologist and a Child and Adolescent Psychiatrist in Indianapolis, Indiana. Dr. Wing is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Periventricular Heterotopia, Focal or Multifocal Malformations in Neuronal Migration, Cortical Dysplasia, and Aicardi Syndrome. Dr. Wing is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      1701 N Senate Blvd, 
      Indianapolis, IN 
       (1.5 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Bittu Majmudar-Sheth is a Pediatric Neurologist and a Pediatrics provider in Indianapolis, Indiana. Dr. Majmudar-Sheth is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Orofaciodigital Syndrome 6, Cerebellar Agenesis, Agyria Pachygyria Polymicrogyria, and Lissencephaly. Dr. Majmudar-Sheth is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Nurse Practitioner
      Experienced in PEPCK 1 Deficiency
      Nurse Practitioner

      Anew Palliative Care LLC

      3830 E Southport Rd, 
      Indianapolis, IN 
       (7.7 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Kortni Haupt is a Nurse Practitioner in Indianapolis, Indiana. Ms. Haupt is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and PEPCK 1 Deficiency. Ms. Haupt is currently accepting new patients.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      Indiana University Health Care Associates Inc

      11725 Illinois St, 
      Carmel, IN 
       (13.1 miles away)
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Riley Snook is a Neurologist in Carmel, Indiana. Dr. Snook is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Chronic Inflammatory Demyelinating Polyneuropathy, Encephalitis, Rasmussen Encephalitis, and Anti-NMDA Receptor Encephalitis. Dr. Snook is currently accepting new patients.

      Showing 1-14 of 14

      Last Updated: 10/30/2025

      What is the definition of PEPCK 1 Deficiency?

      PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). In severe cases, symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by genetic changes in the PEPCK1 gene. PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).

      When should I see a PEPCK 1 Deficiency doctor near Indianapolis, IN?

      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 PEPCK 1 Deficiency doctor near Indianapolis, IN?

      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 PEPCK 1 Deficiency doctors near Indianapolis, IN?

      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 PEPCK 1 Deficiency doctors near Indianapolis, IN?

      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 PEPCK 1 Deficiency doctor near Indianapolis, IN?

      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 PEPCK 1 Deficiency doctor search results page. 

      Why is it important to get a second opinion from a different PEPCK 1 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 PEPCK 1 Deficiency doctor near Indianapolis, IN?

      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 PEPCK 1 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 PEPCK 1 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 PEPCK 1 Deficiency doctors near Indianapolis, IN?

      Look for the filter feature on the left side of the PEPCK 1 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 PEPCK 1 Deficiency doctor that offers video calls?

      Look for the filter feature on the left-side of the PEPCK 1 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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