The 20 Best PEPCK 1 Deficiency Doctors Near Me in orange, CA

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 09/26/2026

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MediFind found 21 doctor with experience in PEPCK 1 Deficiency near orange, CA. Of these, 18 are Experienced and 3 are Advanced.

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21 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 
     (0.8 miles away)
    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 158 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 
     (0.8 miles away)
    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 42 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 
     (0.8 miles away)
    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 156 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 
     (2.0 miles away)
    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 Pyruvate Carboxylase Deficiency. 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 
     (2.0 miles away)
    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 3 other conditions, according to our data. His clinical expertise encompasses Thymidine Kinase 2 Deficiency (TK2d), Glutaric Acidemia Type 2, Retinopathy Pigmentary Mental Retardation, and Adrenoleukodystrophy (ALD). 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
    Pediatric Hematology Oncology
    Experienced in PEPCK 1 Deficiency
    Pediatric Hematology Oncology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    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
    Pediatric Pulmonology
    Experienced in PEPCK 1 Deficiency
    Pediatric Pulmonology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    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
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Neal Nakra is a Pediatric Pulmonologist practicing medicine in Orange, California. Dr. Nakra 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 Asthma, Congenital Unilateral Pulmonary Hypoplasia, Wolf-Hirschhorn Syndrome, and Hypochondroplasia. Dr. Nakra is currently accepting new patients.

    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 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Amit Soni is a Pediatric Hematologist Oncology provider practicing medicine in Orange, California. Dr. Soni 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 Hemophilia A, Ataxia-Pancytopenia Syndrome, Shwachman-Diamond Syndrome, and Hemophilic Arthropathy. Dr. Soni is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Raymond Wang is a Medical Genetics provider practicing medicine in Orange, California. Dr. Wang is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 47 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4A (MPS IVA, Morquio Syndrome Type A), Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Mucopolysaccharidoses (MPS), and Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome). Dr. Wang is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Shaheen Idries is a Pediatric Gastroenterologist practicing medicine in Orange, California. Dr. Idries is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Encopresis, Bowel Incontinence, Neurogenic Bowel, and Fecal Impaction. Dr. Idries is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Sarah Keating is a Palliative Medicine provider practicing medicine in Orange, California. Dr. Keating is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Acrodysostosis, Acrofacial Dysostosis Nager Type, Acrofacial Dysostosis Weyers Type, and Koolen De Vries Syndrome. Dr. Keating is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Experience:
    17+ years
    Languages Spoken:
    English
    Accepting New Patients

    Kimberly Silva is a Pediatric Gastroenterologist practicing medicine in Orange, California. She has been practicing medicine for over 17 years. Dr. Silva 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 Lactose Intolerance, Eosinophilic Esophagitis, Cardiofaciocutaneous Syndrome, and Tracheoesophageal Fistula. Dr. Silva is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Cristel Chapel-Crespo is a Medical Genetics provider practicing medicine in Orange, California. Dr. Chapel-Crespo is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses CLN2 Disease, CLN3 Disease, CLN1 Disease, and CLN4 Disease. Dr. Chapel-Crespo is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Infectious Disease
    Experienced in PEPCK 1 Deficiency
    Pediatric Infectious Disease
    Referral may be required
    1201 West La Veta Avenue, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English
    Accepting New Patients

    Delma Nieves is a Pediatric Infectious Disease provider practicing medicine in Orange, California. Dr. Nieves is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Kawasaki Disease, Congenital Syphilis, Bacterial Meningitis, and Pneumococcal Meningitis. Dr. Nieves is currently accepting new patients.

    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 
     (0.8 miles away)
    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 Radiology
    Experienced in PEPCK 1 Deficiency
    Pediatric Radiology
    Referral may be required

    CHOC Children's Hospital

    1201 W La Veta Ave, 
    Orange, CA 
     (0.8 miles away)
    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
    Experienced in PEPCK 1 Deficiency
    Referral may be required

    CHOC Children's Hospital

    1201 W La Veta Ave, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English

    Amanda Schafenacker is a Pediatrics provider practicing medicine in Orange, California. Dr. Schafenacker 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 Cerebral Hypoxia, Asthma in Children, Genetic Epilepsy with Febrile Seizures Plus (GEFS+), and Glutaric Acidemia Type 2.

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

    Office

    1201 W La Veta Ave, 
    Orange, CA 
     (0.8 miles away)
    Languages Spoken:
    English

    Jennifer Lusk is a Pediatrics provider practicing medicine in Orange, California. Dr. Lusk is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Cerebral Hypoxia, Early Infantile Epileptic Encephalopathy, Wildervanck Syndrome, and CHARGE Syndrome.

    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 
     (0.8 miles away)
    Languages Spoken:
    English

    Andrew Alexander is a Pediatrics provider practicing medicine in Orange, California. Dr. Alexander 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 Cerebral Hypoxia, Asthma in Children, Thymidine Kinase 2 Deficiency (TK2d), and Genetic Epilepsy with Febrile Seizures Plus (GEFS+).

    Showing 1-20 of 21

    Last Updated: 09/26/2026

    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 near orange, 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 orange, 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 orange, 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 orange, 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 orange, 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 orange, 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 orange, 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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