COVID-2019 Alert

The latest information about the 2019 Novel Coronavirus, including vaccine clinics for children ages 6 months and older.

La información más reciente sobre el nuevo Coronavirus de 2019, incluidas las clínicas de vacunación para niños de 6 meses en adelante.


Biochemical Genetics

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