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    Last Updated: 10/30/2025

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    MediFind found 8 doctor with experience in PEPCK 1 Deficiency near Palo Alto, CA. Of these, 8 are Experienced.

    Location
    LocationClose
    8 providers found
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Neurology | Pediatrics
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Neurology | Pediatrics

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English

      Brenda Porter is a Pediatric Neurologist and a Neurologist in Palo Alto, California. Dr. Porter is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Tuberous Sclerosis, Tuberous Sclerosis Complex, Seizures, Epilepsy, and Deep Brain Stimulation.

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

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English
      Accepting New Patients

      Gregory Enns is a Medical Genetics specialist and a Pediatrics provider in Palo Alto, California. Dr. Enns is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Cholesteryl Ester Storage Disease, and Arginase Deficiency. Dr. Enns is currently accepting new patients.

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

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English

      Anne Niehaus is a Medical Genetics provider in Palo Alto, California. Dr. Niehaus is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Microcephaly, Culler Jones Syndrome, Townes-Brocks Syndrome, and CHARGE Syndrome.

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

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English

      Carlos Milla is a Pediatric Pulmonologist and a Pediatrics provider in Palo Alto, California. Dr. Milla is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Cystic Fibrosis, Ciliary Dyskinesia-Bronchiectasis, Pseudomonas Stutzeri Infections, Situs Inversus, and Lung Transplant.

      Experienced in PEPCK 1 Deficiency
      Neurology | Pediatrics | Pediatric Neurology
      Experienced in PEPCK 1 Deficiency
      Neurology | Pediatrics | Pediatric Neurology
      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English

      Fiona Baumer is a Neurologist and a Pediatrics provider in Palo Alto, California. Dr. Baumer is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Benign Rolandic Epilepsy, Seizures, Photosensitive Epilepsy, and West Syndrome.

      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      Experienced in PEPCK 1 Deficiency
      Pediatric Neurology | Pediatrics | Neurology
      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English

      Jennifer O'malley is a Pediatric Neurologist and a Pediatrics provider in Palo Alto, California. Dr. O'malley is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Drug Induced Dyskinesia, Cerebral Palsy, Focal Dystonia, Chorea, and Deep Brain Stimulation.

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

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English

      Jean Chia is a Pediatrics provider in Palo Alto, California. Dr. Chia is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Microcephaly Deafness Syndrome, Early Infantile Epileptic Encephalopathy, CHARGE Syndrome, and Koolen De Vries Syndrome.

      Experienced in PEPCK 1 Deficiency
      Experienced in PEPCK 1 Deficiency

      Lpch Medical Group Div Of Lucile

      725 Welch Rd, 
      Palo Alto, CA 
       (1.8 miles away)
      Languages Spoken:
      English

      Nasha Khavari is a Hepatologist in Palo Alto, California. Dr. Khavari is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Esophageal Atresia Coloboma Talipes, Idiopathic Short Stature (ISS), Familial Short Stature (FSS), and Trichohepatoenteric Syndrome.

      Showing 1-8 of 8

      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 Palo Alto, CA?

      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 Palo Alto, CA?

      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 Palo Alto, CA?

      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 Palo Alto, CA?

      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 Palo Alto, CA?

      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 Palo Alto, CA?

      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 Palo Alto, CA?

      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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