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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) 723-6858. 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