Metabolic/Biochemical Genetics Clinic

Metabolic/Biochemical Genetics Clinic Services Overview

• Comprehensive services, including diagnostic evaluation, complete nutritional assessment, long-term management, recommendations for treatment and genetic counseling of children and adults with suspected or diagnosed inborn errors of metabolism.
  
  
• Staffed by team of clinical biochemical geneticists, nutritionist, genetic counselors, pediatric nurse specialist, social worker and consultants from various medical specialties.
  
  
• Coordination of treatment programs with community health professionals and agencies providing primary care and/or supportive services.

Additional Metabolic/Biochemical Genetics Clinic Special Services

• Diagnostic evaluation and treatment for children and adults with all forms of inborn metabolism, including phenylketonuria, galactosemia, fatty acid oxidation defects, lysosomal storage disorders, organic acidemias, mitochondrial disease, developmental delay, mental retardation and neurologic symptoms.
  
  
• Multiprofessional team and family-oriented approach to care and counseling of patients and families, with participation from clinical biochemical geneticists, genetic couselors, nutritionists, nurses and consultants from neurology, nephrology, cardiology, neurosurgery, orthopedics, speech, occupational and physical therapy.
  
  
• Fully approved California Children's Services Phenylketonuria and other Inborn Errors of Metabolism (Metabolic) Special Care Center
  
  
• Part of the UCSF/Stanford Lysosomal Disease Center
  
  
• Diagnostic evaluations provided by the Stanford Biochemical Genetics Laboratory
  
  
• Prenatal diagnosis provided in collaboration with the Division of Maternal-Fetal Medicine in the Department of Gynecology and Obstetrics.

Metabolic/Biochemical Genetics Faculty

• Tina Cowan, PhD
• Gregory Enns, MB, ChB (Director)
• Louanne Hudgins, MD (Acting Service Chief)
• Melanie Manning, MD

Associated Clinics and Centers

• Genetics Clinic
• Neurogenetics Clinic/Carter Center
• Craniofacial Anomalies Center
• Genetic Counseling Clinic, Johnson Center for Pregnancy and Newborn Services