The Stanford Children’s Health Biochemical Genetics team cares for children and adults with inborn errors of metabolism (IEMs). IEMs are rare genetic disorders that result from a missing or defective enzyme in the body. Clinical symptoms of IEMs vary widely and can range from very mild to life-threatening.
We are a fully-approved California Children’s Services Metabolic Special Care Center. Our specially-trained team of experts provides comprehensive services including:
- Diagnostic evaluation
- Nutritional assessment
- Genetic counseling
- Long-term management for individuals with IEMs
Referrals are accepted for:
- Children with suspected or diagnosed IEMs or mitochondrial disease
- Adults with a confirmed diagnosis of a metabolic or mitochondrial disease
Please note that we are unable to accept referrals for adults without a confirmed molecular diagnosis of mitochondrial disease.
For more information about our services, please call (650) 721-5804. To refer a patient, please contact our Referral Center at (800) 995-5724 or fax a referral request form to (650) 721-2884.
Biochemical Genetics Services Care Team
- Gregory M. Enns, MD - Director, Biochemical Genetics Program
- Chung Lee, MD
- Laurel Calderwood, MS, LCGC
- Susan Schelley, MPH, LCGC
- Nancy Baugh, RD
- Lisa Williams, RD
- Temitope Pedro, RD
- Holly Bernal, RN, MSN, FNPc
- Robin Newman, MSW
