The 20 Best PEPCK 1 Deficiency Doctors Near Me in Texas, US

Find the Top PEPCK 1 Deficiency Experts and Specialists

The 20 Best PEPCK 1 Deficiency Doctors in Texas, US

Last Updated: 02/22/2026

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MediFind found 14 doctor with experience in PEPCK 1 Deficiency near Texas, US. Of these, 13 are Experienced and 1 are Advanced.

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14 providers found
    Experienced in PEPCK 1 Deficiency
    Neurology | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Neurology | Pediatrics

    UT Southwestern - Neurology

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

    Rana Said is a Neurologist and a Pediatrics provider in Dallas, Texas. Dr. Said is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Seizures, Epilepsy, West Syndrome, and Generalized Tonic-Clonic Seizure.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Experienced in PEPCK 1 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 Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Isovaleric Acidemia, Beta-Ketothiolase Deficiency, Biotinidase Deficiency, and Adrenoleukodystrophy (ALD).

    Experienced in PEPCK 1 Deficiency
    Neurology
    Experienced in PEPCK 1 Deficiency
    Neurology

    Office

    6701 Fannin St Ste 1250, 
    Houston, TX 
    Languages Spoken:
    English

    Gloria Diaz is a Neurologist in Houston, Texas. Dr. Diaz is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Seizures, Generalized Tonic-Clonic Seizure, Angelman Syndrome, and Epilepsy.

    Learn about our expert tiers
    Experienced in PEPCK 1 Deficiency
    Neurology | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Neurology | Pediatrics

    UT Southwestern - Neurology

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

    Saima Kayani is a Neurologist and a Pediatrics provider in Dallas, Texas. Dr. Kayani is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Leigh Syndrome, CLN5 Disease, CLN4 Disease, and CLN1 Disease.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Office

    6701 Fannin St Ste 470, 
    Houston, TX 
    Languages Spoken:
    English

    Scott Dorfman is a Radiologist in Houston, Texas. Dr. Dorfman is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Bronchogenic Cyst, Gas Bloat Syndrome, Infantile Pyloric Stenosis, and Appendicitis.

    Experienced in PEPCK 1 Deficiency
    Neurology | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Neurology | Pediatrics

    Children's Health Specialty Center

    2350 N Stemmons Fwy, Ste 4300, 
    Dallas, TX 
    Languages Spoken:
    English

    Meagan Patel is a Neurologist and a Pediatrics provider in Dallas, Texas. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Seizures, Memory Loss, GAPO Syndrome, and Joubert Syndrome.

    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology

    Dell Children's Medical Group

    4910 Mueller Blvd Ste 300, 
    Austin, TX 
    Languages Spoken:
    English

    Daniel Freedman is a Pediatric Neurologist in Austin, Texas. Dr. Freedman is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Seizures, Conversion Disorder, Lennox-Gastaut Syndrome (LGS), and Absence Seizure.

    Advanced in PEPCK 1 Deficiency
    Pediatrics | Pediatric Neurology | Neurology
    Advanced in PEPCK 1 Deficiency
    Pediatrics | Pediatric Neurology | Neurology
    6701 Fannin St, Suite 1560, 
    Houston, TX 
    Languages Spoken:
    English
    Accepting New Patients

    Lisa Emrick is a Pediatrics specialist and a Pediatric Neurologist in Houston, Texas. Dr. Emrick is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are MELAS Syndrome, Hypotonia, CACH Syndrome, Cortical Dysplasia, and Gastrostomy. Dr. Emrick is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Office

    6701 Fannin St Ste 1250, 
    Houston, TX 
    Languages Spoken:
    English

    Akshat Katyayan is a Neurologist in Houston, Texas. Dr. Katyayan is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are West Syndrome, Epilepsy in Children, Seizures, and Lennox-Gastaut Syndrome (LGS).

    Experienced in PEPCK 1 Deficiency
    Pediatric Cardiology
    Experienced in PEPCK 1 Deficiency
    Pediatric Cardiology

    Children's Medical Center/Children's Health

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

    Mansi Gaitonde is a Pediatric Cardiologist in Dallas, Texas. Dr. Gaitonde is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Congenital Heart Disease (CHD), Mitral Atresia, Hypoplastic Left Heart Syndrome (HLHS), and Myocardial Contusion.

    Experienced in PEPCK 1 Deficiency
    Nurse Practitioner
    Experienced in PEPCK 1 Deficiency
    Nurse Practitioner
    1935 Medical District Dr, 
    Dallas, TX 
    Languages Spoken:
    English

    Susan Polachek is a Nurse Practitioner in Dallas, Texas. Ms. Polachek is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Lissencephaly 1, Agyria Pachygyria Polymicrogyria, Hydranencephaly, and VLDLR-Associated Cerebellar Hypoplasia.

    Experienced in PEPCK 1 Deficiency
    Physician Assistant
    Experienced in PEPCK 1 Deficiency
    Physician Assistant

    Texas Childrens Physician Group

    6651 Main St, 
    Houston, TX 
    Languages Spoken:
    English
    Accepting New Patients

    Valerie Parrish is a Physician Assistant in Houston, Texas. Ms. Parrish 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, PEPCK 1 Deficiency, Pyruvate Carboxylase Deficiency, and Dihydrolipoamide Dehydrogenase Deficiency. Ms. Parrish is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatrics
    Experienced in PEPCK 1 Deficiency
    Pediatrics

    Christus Children's

    San Antonio, TX 
    Languages Spoken:
    English

    Laura Wilner is a Pediatrics provider in San Antonio, Texas. Dr. Wilner is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Cerebral Palsy, Focal Dystonia, Moebius Syndrome, and Spastic Diplegia Infantile Type.

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

    Baylor College Of Medicine

    7200 Cambridge St, Fl 10, 
    Houston, TX 
    Languages Spoken:
    English, Portuguese
    Accepting New Patients

    Fernando Scaglia is a Medical Genetics specialist and a Pediatrics provider in Houston, Texas. Dr. Scaglia is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are MELAS Syndrome, Hypotonia, Primary Carnitine Deficiency, and Leigh Syndrome. Dr. Scaglia is currently accepting new patients.

    Showing 1-14 of 14

    Last Updated: 02/22/2026

    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 in Texas, US?

    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 in Texas, US?

    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 in Texas, US?

    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 in Texas, US?

    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 in Texas, US?

    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 in Texas, US?

    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 in Texas, US?

    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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