Biochemical Genetics Clinic
1500 Highland Ave.
Madison, WI 53705
| (800) 323-8942
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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