1500 Highland Ave.
Madison, WI 53705
(608) 263-3301 | (800) 323-8942
Do you have access to UW Health MyChart?
MyChart is a secure, interactive patient portal where you can view portions of your medical record such as lab results, send messages, and more. Request a MyChart account now
About the Biochemical Genetics Clinic
The Biochemical Genetics Clinic is an interdisciplinary clinic for people of all ages who have suspected or known hereditary metabolic disease. These include:
- Aminoacidopathies (such as phenylketonuria or PKU)
- Organic acidemias (including propionic and methylmalonic acidemias)
- Defects of fatty acid metabolism (such as medium chain acyl CoA dehydrogenase deficiency or MCADD)
- Observed neurodevelopmental and biochemical abnormalities (autism spectrum disorders, acidosis, hyperammonemia, seizures)
Professionals in pediatrics, nutrition, genetic counseling, and nursing provide initial diagnostic/confirmatory services and longitudinal medical care and nutritional supervision, counseling, care coordination and referrals.
- Provide comprehensive, state-of-the-art diagnostic services and medical and nutritional management
- Educate patients and families about their biochemical disorders, associated complications and the genetic cause
- Provide health care counseling about potential risks and preventive behaviors
- Refer and collaborate with other health professionals to meet patient’s special needs
- Provide information on community resources and services to support patients and families
- Support and advocate for the patient and family