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Metabolic Disorders

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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 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.

Telehealth appointments are available. Please call our Patient Access Center at 888-770-2462 to make an appointment,
or learn more about telehealth here.

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)
 

Metabolic Rare Disease Research at CHOC

The CHOC Research Institute conducts groundbreaking research on pediatric rare diseases, leading to innovative care that can’t be found elsewhere. About 80% of these conditions fall under the umbrella of metabolic rare diseases.

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:

NORD Center of Excellence badge

  • 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.
  • The largest center for Brineura (cerliponase alfa) treatment and multidisciplinary follow-up for CLN2 associated Batten Disease.
  • One of only three hospitals in California that treats neurometabolic disorders and mitochrondial diseases. Patients come to CHOC from across the United States.
  • A separate, multidisciplinary program for glycogen storage diseases (GSD) to provide a higher level of care to our GSD patients.
  • One of only a few centers in the United States with a specialized program for lysosomal storage diseases (LSD).
  • Complete treatment for women who have a metabolic disorder and who are pregnant or planning a pregnancy.
  • Nutrition support services.
  • Comprehensive multidisciplinary phenylketonuria (PKU) program where patients have access to board-certified metabolic physicians, dietitians, social workers and nurse practitioners.
  • Specialized PKU dietitians who understand the difficulties of a PKU diet, and offer nutritional guidance for disease management. Our PKU dietitians occasionally bring in trained chefs to provide low-protein cooking classes for patients and familes.
  • A full team of metabolic specialists in Orange County and Corona.
  • World-renowned, board-certified metabolic physicians who lecture both nationally and internationally, and hold top positions in the Society of Inborn Errors of Metabolics and Neonatal Screening.
  • CHOC is a member of the UCLA Intercampus Medical Genetics Program, along with UCLA, Cedars-Sinai Medical Center and Harbor-UCLA, which is a post-graduate training program using the clinical and research resources of the affiliated campuses and teaching hospitals.

State-of-the-art Metabolics Laboratory

Doctors in metabolics lab

  Learn more about the CHOC Metabolic Laboratory

At CHOC, 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

Glycogen Storage Diseases

The CHOC 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.

Lysosomal Storage Disorders

The Foundation of Caring Lysosomal Storage Disorders Program at CHOC is a multidisciplinary treatment program for a variety of rare disorders. Our program also includes the only comprehensive program for mucopolysaccharidosis (MPS) in the Western United States. Learn more about the Lysosomal Storage Disorder Program.

Mucopolysaccharidosis (MPS) Center

CHOC, 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.

Neurometabolic Disorders

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.

Phenylketonuria (PKU)

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.

Batten Disease 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.

News, Updates and Stories

Metabolic tests at birth help save lives.

CHOC's highly specialized metabolics team identifies rare and dangerous genetic disorder before it's too late.

Charlotte went undiagnosed with a rare and deadly genetic disease until age 3 1/2, when CHOC specislists diagnosed her with glycogen storage disease 1a (GSD).

Physician tenacity and an experimental treatment help baby with a rare disease.

Meet CHOC's Metabolic Disorder Specialists

Metabolics group

CHOC metabolic disorder physicians specialize 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.

  Learn more about CHOC’s metabolic disorder team

Metabolic Disorders Locations

Map showing location of CHOC Children's Health Center Corona
CHOC Health Center, Corona

854 Magnolia Ave - #101 | Corona, CA 92879 | 888-770-2462

Exterior view of CHOC Orange Clinic
CHOC 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