• Skip to primary navigation
  • Skip to main content
  • Skip to footer
Children's Hospital of Orange County

Children's Hospital of Orange County

Donate
  • I Want To…
    • Find a Doctor
    • Make an Appointment
    • Access CHOC Patient Portal
    • Explore Career Opporunities
    • Estimate My Charges
    • Pay My Bill
    • Request Medical Records
    • Download Vaccine Records
    • Refer a Patient
    • Visit a Patient
    • Connect
    • Volunteer
    • Help
    • I Want To…
      • Find a Doctor
      • Make an Appointment
      • Access CHOC Patient Portal
      • Explore Career Opporunities
      • Estimate My Charges
      • Pay My Bill
      • Request Medical Records
      • Download Vaccine Records
      • Refer a Patient
      • Visit a Patient
      • Connect
      • Volunteer
      • Help
  • Services
    • Primary Care
    • Specialty Care
    • Mental Health
    • Conditions Library
    • All CHOC Services
  • Patients & Families
    • Make an Appointment
    • MyCHOC Patient Portal
    • Pay Your Bill
    • Request Medical Records
    • CHOC Health Hub
  • For Medical Professionals
    • Refer a Patient
    • Care Guidelines
    • Physician Relations
    • Continuing Medical Education
    • Residency and Training Programs
  • Research & Innovation
    • Research Institute
    • Medical Innovation Institute (Mi4)
  • Locations
    • Emergency Departments
    • CHOC Hospital
    • CHOC at Mission Hospital
    • Urgent Care
    • Primary Care Offices
    • Specialty Centers
    • All CHOC Locations
  • About
    • Main Operator: 714-997-3000
    • Customer Care: 714-509-3200
    • Nurse Advice: 1-844-GET-CHOC
    • Contact Us
    • CHOC Foundation
    • Events
    • News Media Resources
  • Find a Doctor
  • Careers
  • Log In
    • MyCHOC
    • MyChart (CHOC Mission)
  • Donate

Questions about your child's health? Call our free 24/7 Nurse Advice Line 844-GET-CHOC.

Home » Metabolic Disorders » Neurometabolic Program

Neurometabolic Program

  • Metabolic Disorders
    • What We Treat
    • Programs and Services
    • Metabolic Rare Disease Research
    • Metabolic Disorder Treatment
    • Newborn Screenings for Metabolic Disorders
    • Meet the Team
Make an Appointment

Call today to schedule an appointment with one of our pediatric specialists.

Call 888-770-2462
Metabolic Disorders Referrals
Physicians can refer patients to CHOC through our eCeptionist Referral Portal.

View the referral guidelines


Refer a Patient
Young girls with big smiles outside

Neurometabolic disorders are a group of conditions causing problems with both metabolism and brain function, and may result in uncontrollable epilepsy, abnormal movements or loss of developmental milestones. These include mitochondrial and demyelinating disorders.

CHOC is the only children’s hospital in the region that offers a specialized and multidisciplinary neurometabolic disorders program for children.

We offer a dedicated program with board-certified biochemical doctors and neurologists in a single visit to provide better resources to our patients and families.

The CHOC Difference

  • A unique and multidisciplinary approach to treating neurometabolic disorders, which includes board-certified metabolic physicians and neurologists in a single visit.
  • CHOC is the only children’s hospital in the region that treats neurometabolic disorders and mitochondrial diseases.
  • A single care setting for all diagnostic and treatment planning, for the convenience of families.
  • We have a dedicated metabolic laboratory that provides accurate and rapid tests results. This can be especially important with a progressing metabolic disorders.
  • Close coordination with your child’s referring pediatrician and local subspecialists.
  • A holistic approach to treatment: we keep your child’s current and future health in mind and prepare for meaningful survivorship into adulthood.
  • The opportunity for families to participate in clinical and scientific research as we work to discover new and better treatments for neurometabolic disorders .
  • Recognition as a NORD Rare Disease Center of Excellence by the National Organization for Rare Disorders, a distinction given to only 31 hospitals in the nation.
NORD Center of Excellence badge

Frequently Asked Questions about Neurometabolic Disorders

What is a neurometabolic disorder?

Neurometabolic disorders are a group of disorders that are characterized by a lack or dysfunction of an enzyme or vitamin necessary for a specific chemical reaction in the body that can lead to specific types of neurometabolic disorders. A lack of these essential metabolites may impair normal brain development.

What are the signs and symptoms of neurometabolic disorder?

With many types of neurometabolic disorders, symptoms first appear in babies or in very young children. Symptoms will vary based on the type of neurometabolic disease a child has.

In some neurometabolic disorders, the structure of the brain has abnormally developed before birth. In other neurometabolic disorders, symptoms become apparent just after birth and at the start of feeding.

Some general symptoms of neurometabolic disorders may include:

  • Seizures
  • Uncontrollable epilepsys
  • Loss of developmental skills
  • Abnormal or uncontrollable movements
  • Weak muscles
  • Poor feeding
  • Respiratory distress
  • Vomiting and more.

How is a neurometabolic disorder diagnosed?

CHOC specialists use the results of genetic testing, as well as a thorough physical exam and patient history to diagnose a neurometabolic disorder.

Some of the tests may include blood and urine tests, cerebrospinal fluid testing, brain imaging and biopsies.

How is a neurometabolic disorder treated?

Treatment will vary depending on what type of neurometabolic disease your child has. At CHOC, your child will be seen in our neurometabolic program and be seen by a team of specialists, including board-certified geneticists and neurologists. Most neurometabolic disorders to not have specific treatments or cures, but are based on the specific condition.

1201 W La Veta Ave
Orange, CA 92868

(714) 997-3000

CHOC is affiiliated with

CHOC Links

  • Contact Us
  • Directions
  • Locations
  • News Media Resources
  • Careers
  • Giving

I Want To…

  • Find a Doctor
  • Refer a Patient
  • Pay My Bill
  • Request Medical Records
  • MyCHOC Patient Portal
  • Volunteer

Legal

  • Patient Rights and Responsibilities
  • Notice of Privacy Practices
  • Notice of Nondiscrimination
  • Language Assistance
  • Pricing Transparency
  • Privacy Policy
Choco Wave
  • US News and World Report
  • The Joint Commission
  • California Awards
  • Magnet Recognized
  • Charity Navigator

Language Assistance:

  • Español
  • 繁體中文
  • Tiếng Việt
  • Tagalog
  • 한국어
  • Հայերեն
  • فارسی
  • Русский
  • 日本語
  • العربية
  • ਪੰਜਾਬੀ
  • ខ្មែរ
  • Hmoob
  • हिंदी
  • ภาษาไทย
  • Facebook
  • Twitter
  • Pinterest
  • Instagram
  • LinkedIn
  • YouTube

©2025 CHOC, A 501(c)(3) Organization