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

Find the Top PEPCK 1 Deficiency Experts and Specialists

The 20 Best PEPCK 1 Deficiency Doctors in California, US

Last Updated: 02/22/2026

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MediFind found 50 doctor with experience in PEPCK 1 Deficiency near California, US. Of these, 47 are Experienced and 3 are Advanced.

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

    Maija-riikka Steenari is a Neurologist and a Pediatric Neurologist in Orange, California. Dr. Steenari is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are PEPCK 1 Deficiency, Dihydrolipoamide Dehydrogenase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency. Dr. Steenari is currently accepting new patients.

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

    Jose Abdenur is a Medical Genetics provider in Orange, California. Dr. Abdenur is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Von Gierke Disease, Glycogen Storage Disease Type 3, Hyperlysinemia, and Glutaric Acidemia Type 1. Dr. Abdenur is currently accepting new patients.

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

    Richard Chang is a Medical Genetics provider in Orange, California. Dr. Chang is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Adrenoleukodystrophy (ALD), and Citrullinemia. Dr. Chang is currently accepting new patients.

    Learn about our expert tiers
    Raymond Y. Wang
    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English

    Raymond Wang is a Medical Genetics provider in Orange, California. Dr. Wang is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Pompe Disease, and Adenoidectomy.

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

    Geetha Puthenveetil is a Pediatric Hematologist Oncology provider in Orange, California. Dr. Puthenveetil is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are 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

    Office

    730 Welch Rd Ste 206, 
    Palo Alto, CA 
    Languages Spoken:
    English

    Brenda Porter is 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 Seizures, Tuberous Sclerosis, Tuberous Sclerosis Complex, Epilepsy, and Deep Brain Stimulation.

    Experienced in PEPCK 1 Deficiency
    Pediatric Radiology
    Experienced in PEPCK 1 Deficiency
    Pediatric Radiology

    CHOC Children's Hospital

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

    Michael Chiang is a Pediatric Radiologist in Orange, California. Dr. Chiang is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Intussusception in Children, Tracheobronchopathia Osteoplastica, Horseshoe Kidney, and Ureterocele.

    Experienced in PEPCK 1 Deficiency
    Pediatric Pulmonology
    Experienced in PEPCK 1 Deficiency
    Pediatric Pulmonology
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English

    Sunil Kamath is a Pediatric Pulmonologist in Orange, California. Dr. Kamath is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Hypochondrogenesis, Pectus Excavatum, Asthma, and Koolen De Vries Syndrome.

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

    Neal Nakra is a Pediatric Pulmonologist in Orange, California. Dr. Nakra is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Obstructive Sleep Apnea, Multiple Epiphyseal Dysplasia, Asthma, and Bronchogenic Cyst. Dr. Nakra is currently accepting new patients.

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

    Amit Soni is a Pediatric Hematologist Oncology provider in Orange, California. Dr. Soni is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Hemophilia A, Shwachman-Diamond Syndrome, Ataxia-Pancytopenia Syndrome, and Hemophilic Arthropathy. Dr. Soni is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    Experienced in PEPCK 1 Deficiency
    Palliative Medicine
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Sarah Keating is a primary care provider, practicing in Palliative Medicine in Orange, California. Dr. Keating is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Acrodysostosis, Acrofacial Dysostosis Nager Type, Acrofacial Dysostosis Weyers Type, and Townes-Brocks Syndrome. Dr. Keating is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Shaheen Idries is a Pediatric Gastroenterologist in Orange, California. Dr. Idries is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Delayed Growth, Chronic Idiopathic Constipation (CIC), Encopresis, and Bowel Incontinence. Dr. Idries is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    Experienced in PEPCK 1 Deficiency
    Pediatric Gastroenterology
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Kimberly Silva is a Pediatric Gastroenterologist in Orange, California. Dr. Silva is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Lactose Intolerance, Eosinophilic Esophagitis, Cardiofaciocutaneous Syndrome, and Morning Sickness. Dr. Silva is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Infectious Disease
    Experienced in PEPCK 1 Deficiency
    Pediatric Infectious Disease
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Delma Nieves is a Pediatric Infectious Disease provider in Orange, California. Dr. Nieves is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Toxic Shock Syndrome, Kawasaki Disease, Congenital Syphilis, and Arachnoiditis. Dr. Nieves is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Cristel Chapel is a Medical Genetics provider in Orange, California. Dr. Chapel is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are CLN1 Disease, CLN5 Disease, CLN2 Disease, and CLN3 Disease. Dr. Chapel is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    Experienced in PEPCK 1 Deficiency
    Pediatric Neurology
    170 South Main Street, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients

    Aram Kim is a Pediatric Neurologist in Orange, California. Dr. Kim is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Autism Spectrum Disorder, Adrenoleukodystrophy (ALD), X-Linked Creatine Deficiency, and GABA-Transaminase Deficiency. Dr. Kim is currently accepting new patients.

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

    Kaiser Permanente Roseville Medical Center

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

    Ernesto Rivera is a Pediatric Cardiologist in Roseville,, California. Dr. Rivera is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Familial Neurocardiogenic Syncope, Sinus of Valsalva Aneurysm, Fainting, and Heart Murmurs.

    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    Experienced in PEPCK 1 Deficiency
    Medical Genetics
    1201 West La Veta Avenue, 
    Orange, CA 
    Languages Spoken:
    English
    Accepting New Patients
    Offers Telehealth

    Changrui Xiao is a Medical Genetics provider in Orange, California. Dr. Xiao is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Glutaric Acidemia Type 2, Retinopathy Pigmentary Mental Retardation, Adrenoleukodystrophy (ALD), and X-Linked Creatine Deficiency. Dr. Xiao is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Children's Hospital Los Angeles

    4650 W Sunset Blvd, 
    Los Angeles, CA 
    Languages Spoken:
    English

    Jessica Perniciaro is a Pediatrics provider in Los Angeles, California. Dr. Perniciaro is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. Her top areas of expertise are Asthma in Children, Cerebral Hypoxia, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    PSF Cardiology

    455 S Main St, 
    Orange, CA 
    Languages Spoken:
    English

    Sameer Pathare is a Pediatrics provider in Orange, California. Dr. Pathare is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. His top areas of expertise are Cerebral Hypoxia, Infant Botulism, Asthma in Children, and Malnutrition.

    Showing 1-20 of 50

    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 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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