Biochemical Genetics

Our large, robust Biochemical Genetics program at Stanford Medicine Children’s Health diagnoses and treats common, rare, and unknown inherited metabolic disorders (also called inborn errors of metabolism (IEMs). We offer lifelong, comprehensive, multispecialty care to children of all ages, diagnosed young adults, and pregnant individuals.

Why choose us for biochemical genetic care

• With us, your care is well-rounded and convenient. Besides biochemical geneticists and genetic counselors, our care team includes dietitians and social workers to provide you/your child and family with well-rounded care, including specialized diets and emotional and school support.
• We are national experts in common and rare metabolic conditions. Our team specializes in diagnosing and treating all known inborn errors of metabolism (IEMs). Our specialization means the latest, best care for you (a diagnosed pregnant adult) or your child. We also have the added benefit of an on-site biochemistry laboratory for quick, accurate results.
• We provide the important option of clinical trials. We offer you/your child a chance to receive new, cutting-edge treatments through clinical trials. In some cases, this means treatment where none existed before. Also, we work with the Undiagnosed Diseases Network and the National Organization for Rare Disorders to diagnose rare and unknown metabolic disorders.  
• We offer a wide variety of treatment options. We partner with Fetal and Pregnancy Health to care for developing babies, and we offer answers to flagged newborn screenings. We help ease symptoms with diets, enzyme replacement therapy, and medications. We also partner with a variety of specialties within Stanford Children’s, including pediatric transplant specialists, neurologists, and hepatologists, to offer you/your child next-level, expert care.