Metabolic Disorders
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Metabolic Disorders Referrals
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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.
What We Treat
Many but not all of these conditions can be detected through newborn screening programs.
- 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)
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.
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:
- A single care setting for all diagnostic testing and treatment planning, for the convenience of families
- A dedicated metabolic laboratory that provides accurate and rapid test results. This can be especially important with a progressing metabolic disorder.
- The only comprehensive and multidisciplinary program for mucopolysaccharidosis (MPS) in the Western United States. In a single visit, patients will see a metabolic disorder specialist, neurologist, endocrinologist, orthopaedic surgeon, cardiologist and psychologist.
- 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.
- 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 families.
- 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.
State-of-the-art Metabolics 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, and a specialized research laboratory to study lysosomal storage diseases, including Pompe disease.
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.
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