Metabolic Disorders

Happy siblings standing next to trailer

Inborn metabolic disorders are rare genetic disorders that result from a missing or defective enzyme in the body. Symptoms of metabolic disorders vary widely and can range from mild to life threatening.

Many can cause seizures, developmental delays, permanent brain damage or even death if they are not controlled. Diagnosis is often like putting a puzzle of symptoms together, many of which are unique to the patient.

The doctors at CHOC Children’s have been the first to identify some of the rarest diseases associated with inborn metabolic disorders. For some metabolic diseases, we offer the only specialized treatment programs on the West Coast, and many of our patients travel to CHOC from around the world for treatment.

A Multidisciplinary Approach to Treating Metabolic Disorders

Treating known rare diseases is hard enough, but trying to figure out what the rare or undiagnosed disease is can be time consuming and exhaustive. At CHOC, our dedicated metabolic physicians understand the specialized expertise and multidisciplinary approach needed to diagnose and care for children with both diagnosed and undiagnosed inborn metabolic disorders.

Our specially trained team of experts provides comprehensive services including:

  • Diagnostic evaluation
  • Nutritional assessment
  • Genetic counseling
  • Long-term management for individuals with inborn metabolic disorders

CHOC specialists work together as a team to discuss your child’s case and determine the best course of treatment. Depending on your child’s condition, your appointment may include CHOC experts from our many other specialties, such as genetics, neurology, endocrinology, orthopaedic surgery, cardiology and psychology.

Our team also collaborates with specialized dietitians, social workers, respiratory therapists, nurses and nurse practitioners, rehabilitation therapists, pharmacists, speech and occupational therapists and child life specialists to develop a unique treatment plan for your child.

What We Treat

We specialize in the diagnosis and treatment of inborn errors of metabolism, including organic acidemias, urea cycle defects, fatty acid oxidation defects, glycogen storage disorders, lysosomal storage disorders and mitochondrial diseases among others. Many, but not all of these conditions can be detected through newborn screening programs.

Commonly treated disorders:

  • Urea Cycle Disorders
  • Organic Acidurias
  • Amino Acid Disorders
  • Vitamin and Cofactor Disorders
  • Carbohydrate Metabolism Disorders
  • Fatty Acid Oxidation Disorders
  • Mitochondrial disorders (MELAS, MERRF, cytochrome C oxidase deficiency)
  • Neurotransmitter Disorders
  • Lysosomal Storage Diseases
  • Peroxisomal Disorders
  • Other Inborn Errors of Metabolism: Creatine disorders, Purines & Pyrimidines disorders, Congenital Disorders of Glycosylation (CDG)


The CHOC Difference

CHOC is a fully approved California Children’s Services Metabolic Special Care Center, and offers the only program serving Orange, San Bernardino and parts of Riverside counties, and is one of the largest referral centers for the California newborn screening program. We provide for our patients and families:

State-of-the-art Metabolics Laboratory

At CHOC Children’s, we are proud to feature a dedicated metabolic laboratory that provides accurate and rapid test results. This can be especially important with a progressing metabolic disorder.

Our metabolic laboratory is certified by the College of American Pathologists (CAP), CLIA (a Centers for Medicare & Medicaid Services program) and by the State of California. The CHOC metabolic lab also includes:

  • The CHOC Energy Laboratory – a specialized research laboratory focusing on energy metabolism where researchers study patients who have defects in energy production. Study results have improved the accuracy of diagnosing rare metabolic disorders which had previously escaped detection through commercial laboratories.
  • A specialized research laboratory to study lysosomal storage diseases, including Pompe disease.

Innovative Programs, Specialized Expertise

The CHOC Children’s Glycogen Storage Disease (GSD) program is unique in California. CHOC provides a separate, specialized program so that we can concentrate more on the patient and provide better resources to the family. In a single visit, our patients are seen by a metabolic doctor, a specialized dietitian and a social worker. Learn more about the Glycogen Storage Disorder Program. Learn more about the Glycogen Storage Disorder Program.
The CHOC Lysosomal Storage Disorder Program is a multidisciplinary treatment program for a variety of rare disorders. Our program also includes the only comprehensive program for mucopolysaccharidosos (MPS) in the Western United States. Learn more about the Lysosomal Storage Disorder Program.
CHOC Children’s, together with Harbor-UCLA Pediatrics, offer the only place in the Western United States for children to receive comprehensive and coordinated treatment for a rare disease called mucopolysaccharidosis (MPS). In a single visit, patients and their families will see a geneticist, neurologist, endocrinologist, orthopaedic surgeon, and cardiologist, all of whom have expertise to collectively manage MPS and its effects on different areas of the body. Learn more about the MPS Center.
CHOC is the only children’s hospital in the region that offers a specialized and multidisciplinary neurometabolic disorders program for children. Neurometabolic disorders are a group of conditions causing problems with both metabolism and brain function. Learn more about the Neurometabolic Disorders Program.
CHOC offers a dedicated and multidisciplinary program to diagnose and treat children with phenylketonuria (PKU), an inherited disease in which the body cannot metabolize a protein called phenylalanine. Learn more about the Phenylketonuria (PKU) Program.
CHOC offers one of only a few programs in the nation to treat Batten disease, also known as CLN2 or late-infantile neuronal ceroid lipofuscinoses (NCL). Learn more about the Batten Disease Program.

Newborn Screening

Newborn Screening is a public health program that screens all babies for many serious but treatable genetic disorders. All babies born in California are required to get screened soon after birth.

Newborn screening began in California in 1966 with screening for one disorder, phenylketonuria (PKU). The Program has expanded and now includes more than 80 different genetic and congenital disorders. The goal of the program is to identify babies with these disorders early, so that treatment can be started right away.

CHOC receives state referrals for metabolic disorders from Orange, Riverside and San Bernardino counties. Learn more about metabolic tests at birth.

Meet CHOC's Metabolic Disorder Specialists

Metabolics group

CHOC Children’s metabolic disorder physicians specializes in diagnosing rare conditions that require hours of unraveling symptoms, researching cases and analyzing data to give parents long-sought answers to what’s ailing their child.

Metabolic Disorders Locations

Map showing location of CHOC Children's Health Center Corona

CHOC Children’s Health Center, Corona

854 Magnolia Ave - #101 | Corona, CA 92879

Exterior view of CHOC Orange Clinic

CHOC Children’s Clinic – Specialty Care

Building: CHOC Clinic | 1201 W. La Veta Ave. | Orange, CA 92868 | 888-770-2462

Exterior view of CHOC Orange Clinic

Metabolic Laboratory

Building: CHOC Clinic | 1201 W. La Veta Ave., Room 530 | Orange, CA 92868 | 888-770-2462

Long Live Childhood

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