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

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 09/19/2026

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MediFind found 53 doctor with experience in PEPCK 1 Deficiency near California, US. Of these, 50 are Experienced and 3 are Advanced.

Location
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53 providers found
    Advanced in PEPCK 1 Deficiency
    Neurology | Pediatric Neurology
    Advanced in PEPCK 1 Deficiency
    Neurology | Pediatric Neurology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Maija-riikka Steenari is a Neurologist and a Pediatric Neurologist practicing medicine in Orange, California. Dr. Steenari is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 157 other conditions, according to our data. Her clinical expertise encompasses Pyruvate Carboxylase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Dihydrolipoamide Dehydrogenase Deficiency. Dr. Steenari is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Medical Genetics
    Advanced in PEPCK 1 Deficiency
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Jose Abdenur is a Medical Genetics provider practicing medicine in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Von Gierke Disease, Glycogen Storage Disease Type 9, Glycogen Storage Disease Type 3, and Malonyl-CoA Decarboxylase Deficiency. Dr. Abdenur is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Medical Genetics
    Advanced in PEPCK 1 Deficiency
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Richard Chang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 155 other conditions, according to our data. His clinical expertise encompasses Phenylketonuria (PKU), Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Maternal Hyperphenylalaninemia, and Adrenoleukodystrophy (ALD). Dr. Chang is currently accepting new patients.

    Learn about our expert tiers
    Experienced in PEPCK 1 Deficiency
    Pediatric Infectious Disease | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Pediatric Infectious Disease | Pediatrics
    Referral may be required

    UC Irvine Medical Center

    101 The City Drive South, 
    Orange, CA 
    Languages Spoken:
    English, Farsi, Spanish

    Behnoosh Afghani is a Pediatric Infectious Disease specialist and a Pediatrics provider practicing medicine in Orange, California. Dr. Afghani is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Kawasaki Disease, Cerebral Hypoxia, PEPCK 1 Deficiency, and Autosomal Recessive Congenital Methemoglobinemia. Dr. Afghani is board certified in American Board Of Pediatrics - Pediatrics and American Board Of Pediatrics - Pediatric Infectious Diseases.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Neurology
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Neurology
    Referral may be required

    UC Irvine Medical Center

    101 The City Drive South, Building 30, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Changrui Xiao is a Medical Genetics specialist and a Neurologist practicing medicine in Orange, California. Dr. Xiao is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Glutaric Acidemia Type 2, Retinopathy Pigmentary Mental Retardation, Adrenoleukodystrophy (ALD), and X-Linked Creatine Deficiency. Dr. Xiao is board certified in American Board Of Psychiatry And Neurology - Neurology and American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics. Dr. Xiao is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Referral may be required

    Office

    1600 Eureka Rd Ste 21, 
    Roseville, CA 
    Languages Spoken:
    English

    Elaine Chiu is a Palliative Medicine provider practicing medicine in Roseville, California. Dr. Chiu is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her clinical expertise encompasses PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and Autosomal Recessive Congenital Methemoglobinemia.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    CHOC Children's Hospital

    1201 W La Veta Ave, 
    Orange, CA 
    Languages Spoken:
    English

    Sameer Pathare is a Pediatrics provider practicing medicine in Orange, California. Dr. Pathare is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Cerebral Hypoxia, Infant Botulism, Asthma in Children, and Malnutrition.

    Experienced in PEPCK 1 Deficiency
    Pediatric Hematology Oncology
    Experienced in PEPCK 1 Deficiency
    Pediatric Hematology Oncology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Geetha Puthenveetil is a Pediatric Hematologist Oncology provider practicing medicine in Orange, California. Dr. Puthenveetil is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Alpha Thalassemia, Thalassemia, Hemolytic Anemia, and Beta Thalassemia. Dr. Puthenveetil is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Roseville Medical Center

    1600 Eureka Road, 2nd Floor, 
    Roseville, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Lawrence Manhart is a Physiatrist practicing medicine in Roseville, California. Dr. Manhart is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Moebius Syndrome, Cerebral Palsy, Spasticity, and Oppenheim Dystonia. Dr. Manhart is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto,, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Brenda Porter is a Neurologist practicing medicine in Palo Alto,, California. Dr. Porter is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 42 other conditions, according to our data. Her clinical expertise encompasses Tuberous Sclerosis, Tuberous Sclerosis Complex, Seizures, Epilepsy, and Deep Brain Stimulation. Dr. Porter is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Referral may be required
    33608 Ortega Hwy, 
    San Juan Capistrano, CA 
    Languages Spoken:
    English

    Charles Strom is a Pediatrics specialist and a Medical Genetics provider practicing medicine in San Juan Capistrano, California. Dr. Strom is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 110 other conditions, according to our data. His clinical expertise encompasses Mosaicism, Chromosome 13q Deletion, 47 XYY Syndrome, and Lacrimo-Auriculo-Dento-Digital Syndrome.

    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Referral may be required

    Kaiser Permanente Roseville Medical Center

    1600 Eureka Rd, 
    Roseville, CA 
    Languages Spoken:
    English

    Katie Friederich is a Pediatric Neurologist practicing medicine in Roseville, California. Dr. Friederich is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, Seizures, Epilepsy, and Autosomal Recessive Congenital Methemoglobinemia.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Sacramento Medical Center

    1650 Response Road, 
    Sacramento, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Kamer Tezcan is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Sacramento, California. Dr. Tezcan is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Chromosome 10q Deletion, Neurofibromatosis Type 1 (NF1), Chromosome 13q Duplication, and Neurofibromatosis. Dr. Tezcan is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Neurosurgery
    Experienced in PEPCK 1 Deficiency
    Neurosurgery
    Referral may be required

    Kaiser Permanente Roseville Medical Center

    1600 Eureka Rd, 
    Roseville, CA 
    Languages Spoken:
    English

    Sean Mcnatt is a Neurosurgery provider practicing medicine in Roseville, California. Dr. Mcnatt is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Cerebellum Agenesis Hydrocephaly, Syringomyelia, Chiari Malformation Type 2, Awake Craniotomy, and Laminectomy.

    Experienced in PEPCK 1 Deficiency
    Pediatric Radiology
    Experienced in PEPCK 1 Deficiency
    Pediatric Radiology
    Referral may be required

    CHOC Children's Hospital

    1201 W La Veta Ave, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Michael Chiang is a Pediatric Radiologist practicing medicine in Orange, California. Dr. Chiang is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 22 other conditions, according to our data. His clinical expertise encompasses Aseptic and Alopecic Nodules of Scalp (AANS), PIK3CA-Related Overgrowth Spectrum, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Chiang is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics | Pediatrics
    Referral may be required

    Lpch Medical Group Div Of Lucile

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Gregory Enns is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Palo Alto, California. Dr. Enns is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 53 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Methylmalonic Acidemia, Arginase Deficiency, and Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency. Dr. Enns is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Pulmonology
    Experienced in PEPCK 1 Deficiency
    Pediatric Pulmonology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Sunil Kamath is a Pediatric Pulmonologist practicing medicine in Orange, California. Dr. Kamath is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses Hypochondrogenesis, Asthma, Congenital Unilateral Pulmonary Hypoplasia, and Koolen De Vries Syndrome. Dr. Kamath is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Pulmonology
    Experienced in PEPCK 1 Deficiency
    Pediatric Pulmonology
    Referral may be required

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English

    Carlos Milla is a Pediatric Pulmonologist practicing medicine in Palo Alto, California. Dr. Milla is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Cystic Fibrosis, Ciliary Dyskinesia-Bronchiectasis, Pseudomonas Stutzeri Infections, Situs Inversus, and Lung Transplant.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    Lucile Packard Children's Hospital Stanford

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English

    Fiona Baumer is a Neurologist practicing medicine in Palo Alto, California. Dr. Baumer is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 98 other conditions, according to our data. Her clinical expertise encompasses Benign Rolandic Epilepsy, Seizures, Photosensitive Epilepsy, and Epilepsy.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Referral may be required

    Lpch Medical Group Div Of Lucile

    725 Welch Rd, 
    Palo Alto, CA 
    Languages Spoken:
    English
    Offers Telehealth

    Anne Niehaus is a Medical Genetics provider practicing medicine in Palo Alto, California. Dr. Niehaus is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 115 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, Campomelia Cumming Type, Currarino Triad, and C Syndrome.

    Showing 1-20 of 53

    Last Updated: 09/19/2026

    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 California, 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 California, 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 California, 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 California, 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 California, 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 California, 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 California, 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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