The 20 Best PEPCK 1 Deficiency Doctors in The United States

Find the Top PEPCK 1 Deficiency Experts and Specialists

Last Updated: 04/28/2026

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MediFind found 254 doctor with experience in PEPCK 1 Deficiency near The United States. Of these, 208 are Experienced, 45 are Advanced and 1 are Distinguished.

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254 providers found
    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics
    Advanced in PEPCK 1 Deficiency
    Pediatrics | Medical Genetics

    Corewell Health Grand Rapids Hospitals Biochemical Genetics - 25 Michigan St NE

    25 Michigan Street Northeast, Suite 2100, 
    Grand Rapids, MI 
    Experience:
    8+ years
    Languages Spoken:
    English
    Offers Telehealth

    Jessica Priestley is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 8 years. Dr. Priestley is rated as an Advanced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 21 other conditions, according to our data. Her clinical expertise encompasses Fabry Disease, Biotinidase Deficiency, Ornithine Transcarbamylase Deficiency, and Multiple Sulfatase Deficiency. Dr. Priestley is board certified in American Board Of Medical Genetics And Genomics, American Board Of Medical Genetics And Genomics, and American Board Of Pediatrics.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

    160 E Erie Ave, 
    Philadelphia, PA 
    Languages Spoken:
    English

    . Dr. Narumanchi is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses Urea Cycle Disorders (UCD), Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, and Dihydropteridine Reductase Deficiency. Dr. Narumanchi is board certified in American Board Of Medical Genetics And Genomics.

    Distinguished in PEPCK 1 Deficiency
    Neuromusculoskeletal Medicine
    Distinguished in PEPCK 1 Deficiency
    Neuromusculoskeletal Medicine

    University Pathology Associates PLLC

    2500 N State St, 
    Jackson, MS 
    Languages Spoken:
    English
    Offers Telehealth

    Lamar Davis is a Neuromusculoskeletal Medicine provider practicing medicine in Jackson, Mississippi. Dr. Davis is rated as a Distinguished provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 Deficiency, Autosomal Recessive Congenital Methemoglobinemia, and Pyruvate Carboxylase Deficiency.

    Learn about our expert tiers
    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 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 24 other conditions, according to our data. Her clinical expertise encompasses Dihydrolipoamide Dehydrogenase Deficiency, PEPCK 1 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 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 3, Malonyl-CoA Decarboxylase Deficiency, and Hyperlysinemia. 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

    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), Maternal Hyperphenylalaninemia, Arginase Deficiency, and Urea Cycle Disorders (UCD). Dr. Chang is currently accepting new patients.

    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner
    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner

    South Philadelphia Pediatrics

    1408 South Broad Street, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Elizabeth Bowman is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Ms. Bowman is rated as an Advanced 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 Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, Pyruvate Carboxylase Deficiency, and PEPCK 1 Deficiency.

    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner
    Advanced in PEPCK 1 Deficiency
    Nurse Practitioner

    South Philadelphia Pediatrics

    1408 South Broad Street, 2nd Floor, 
    Philadelphia, PA 
    Languages Spoken:
    English

    Nicole Sue is a Nurse Practitioner practicing medicine in Philadelphia, Pennsylvania. Ms. Sue is rated as an Advanced 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 Pyruvate Carboxylase Deficiency, Autosomal Recessive Congenital Methemoglobinemia, Dihydrolipoamide Dehydrogenase Deficiency, and PEPCK 1 Deficiency.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Ochsner Medical Complex - The Grove

    10310 The Grove Blvd, 
    Baton Rouge, LA 
    Languages Spoken:
    English
    Offers Telehealth

    William Murrill is a Nephrologist practicing medicine in Baton Rouge, Louisiana. Dr. Murrill 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 Nephrosclerosis, Renovascular Hypertension, End-Stage Renal Disease (ESRD), and Chronic Kidney Disease. Dr. Murrill is board certified in American Board Of Internal Medicine - Nephrology.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Ochsner Medical Complex - The Grove

    10310 The Grove Blvd, 
    Baton Rouge, LA 
    Languages Spoken:
    English

    Robert Landry is a Nephrologist practicing medicine in Baton Rouge, Louisiana. Dr. Landry is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Nephrosclerosis, Renovascular Hypertension, Chronic Kidney Disease, and End-Stage Renal Disease (ESRD). Dr. Landry is board certified in American Board Of Internal Medicine - Internal Medicine and American Board Of Internal Medicine - Nephrology.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Corewell Health Pediatric Ophthalmology - 35 Michigan St NE

    35 Michigan Street Northeast, Suite 5101, 
    Grand Rapids, MI 
    Experience:
    13+ years
    Languages Spoken:
    English

    Lauren Fletcher is a Pediatrics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 13 years. Dr. Fletcher 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 Strabismus, Esotropia, Amblyopia, and Astigmatism. Dr. Fletcher is board certified in American Osteopathic Board Of Ophthalmology & Otolaryngology.

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

    Brighton Center For Specialty Care

    7500 Challis Rd, Entrance 1, Level 2, 
    Brighton, MI 
    Languages Spoken:
    English

    Eric Armour is a Pediatrics specialist and a Neurologist practicing medicine in Brighton, Michigan. Dr. Armour is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 34 other conditions, according to our data. His clinical expertise encompasses Seizures, Generalized Tonic-Clonic Seizure, Tuberous Sclerosis, and Tuberous Sclerosis Complex. Dr. Armour is board certified in Clinical Neurophysiology, Neurology W/Spec Qual Child Neuro, and Epilepsy.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Brigham And Women's Fish Center For Women's Health

    850 Boylston Street, Suite 402 Mass General Brigham Healthcare Center, 
    Chestnut Hill, MA 
    Languages Spoken:
    English
    Offers Telehealth

    Arielle Langer is a Hematologist practicing medicine in Chestnut Hill, Massachusetts. Dr. Langer is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Sickle Cell Disease, Thalassemia, Thrombocytopenia, and Immune Thrombocytopenic Purpura (ITP). Dr. Langer is board certified in Internal Medicine and Hematology.

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

    Helen DeVos Children's Hospital Neurology

    35 Michigan Street Northeast, Suite 3003, 
    Grand Rapids, MI 
    Experience:
    26+ years
    Languages Spoken:
    English
    Accepting New Patients

    Anastasia Luniova is a Pediatric Neurologist practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 26 years. Dr. Luniova is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Seizures, Epilepsy in Children, Absence Seizure, and Myoclonic Epilepsy. Dr. Luniova is board certified in American Board Of Psychiatry And Neurology, Epilepsy - 2017 , American Board Of Psychiatry And Neurology, Clinical Neurophysiology - 2015 , and American Board Of Psychiatry And Neurology, Neurology With Special Qualification In Child Neurology - 2014. Dr. Luniova is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Ochsner Medical Complex - The Grove

    10310 The Grove Blvd, 
    Baton Rouge, LA 
    Languages Spoken:
    English

    James Yegge is a Nephrologist practicing medicine in Baton Rouge, Louisiana. Dr. Yegge 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 Nephrosclerosis, Renovascular Hypertension, End-Stage Renal Disease (ESRD), and Chronic Kidney Disease. Dr. Yegge is board certified in American Board Of Internal Medicine - Nephrology.

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

    Corewell Health William Beaumont University Hospital Adult Neurosurgery Florence & Richard McBrien Pediatric Neuroscience Center - 3555 W 13 Mile Rd

    3555 West 13 Mile Road, Suite N300, 
    Royal Oak, MI 
    Experience:
    16+ years
    Languages Spoken:
    English
    Accepting New Patients

    Nancy Mcnamara is a Pediatrics specialist and a Pediatric Neurologist practicing medicine in Royal Oak, Michigan. She has been practicing medicine for over 16 years. Dr. Mcnamara is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Seizures, Epilepsy in Children, Lennox-Gastaut Syndrome (LGS), and Generalized Tonic-Clonic Seizure. Dr. Mcnamara is board certified in American Board Of Psychiatry And Neurology and American Board Of Psychiatry And Neurology. Dr. Mcnamara 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

    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 50 other conditions, according to our data. His clinical expertise encompasses 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
    Experienced in PEPCK 1 Deficiency

    Oakwood Family Center

    18501 Rotunda Drive, Suite 200, 
    Dearborn, MI 
    Experience:
    33+ years
    Languages Spoken:
    English
    Accepting New Patients

    Susan Youngs is a Pediatrics provider practicing medicine in Dearborn, Michigan. She has been practicing medicine for over 33 years. Dr. Youngs is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Cerebral Palsy, Rasmussen Encephalitis, Encephalitis, and Autism Spectrum Disorder. Dr. Youngs is board certified in American Board Of Physical Medicine And Rehabilitation, American Board Of Physical Medicine And Rehabilitation, and American Board Of Pediatrics. Dr. Youngs is currently accepting new patients.

    Experienced in PEPCK 1 Deficiency
    Experienced in PEPCK 1 Deficiency

    Ochsner Medical Complex - The Grove

    10310 The Grove Blvd, 
    Baton Rouge, LA 
    Languages Spoken:
    English
    Offers Telehealth

    Michael Roppolo is a Nephrologist practicing medicine in Baton Rouge, Louisiana. Dr. Roppolo is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Nephrosclerosis, Renovascular Hypertension, Chronic Kidney Disease, and End-Stage Renal Disease (ESRD). Dr. Roppolo is board certified in American Board Of Internal Medicine - Internal Medicine and American Board Of Internal Medicine - Nephrology.

    Experienced in PEPCK 1 Deficiency
    Pediatric Surgery | General Surgery
    Experienced in PEPCK 1 Deficiency
    Pediatric Surgery | General Surgery

    Brighton Center For Specialty Care

    7500 Challis Rd, Entrance 1 Level 2, 
    Brighton, MI 
    Languages Spoken:
    English

    Born in South India (Andhra), but growing up in Flushing, Queens in New York, Dr. Gadepalli has found a home in Ann Arbor. He completed his undergraduate education at Rensselaer Polytechnic Institute in Troy, NY and medical school at Albany Medical College in Albany, NY. His general surgical residency was at Morristown Memorial Hospital in Morristown, NJ. While in training, he obtained an MBA through the University of Phoenix Online program concentrating on Health Care Management. His educational accolades included Resident Teacher of the Year awards twice during residency, culminating in being a Finalist for the Resident Award for Exemplary Teaching, in 2007, given by the American College of Surgeons. He completed a Masters in Health and Health Care Research at the Institute for Health Policy and Innovation, in the North Campus Research Center.At University of Michigan, Dr. Gadepalli completed fellowships in both Surgical Critical Care and Pediatric Surgery and is board certified in General Surgery, Critical Care and Pediatric Surgery. He is the Daniel H. Teitelbaum, MD Collegiate Professor in the Department of Surgery. His clinical practice encompasses all aspects of pediatric surgery, including minimally invasive surgery, non-cardiac thoracic surgery, neonatal surgery, hepatobiliary and pancreatic surgery, surgical oncology, abdominal, colorectal and genitourinary abnormalities, trauma and critical care. His unique background allows expertise in the critical care needs of the surgical neonatal and pediatric populations, including the use of extracorporeal membrane oxygenation (ECMO) in children.On a personal note, he has 4 children, from elementary to high school, who keep him well grounded and up-to-date on all the newest trends. As a 90s kid, he enjoys hip hop music and dancing with his daughters and his son, who is working on becoming an Eagle Scout. He loves to play pick-up basketball and watch movies, such as StarWars, Harry Potter and the Avengers series. Dr. Gadepalli is rated as an Experienced provider by MediFind in the treatment of PEPCK 1 Deficiency. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Omphalocele, Tracheoesophageal Fistula, Donnai-Barrow Syndrome, Appendectomy, and Ileostomy.

    Showing 1-20 of 254

    Last Updated: 04/28/2026

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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 The United States?

    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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