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Biochemical Genetics Clinic

Waisman Center

1500 Highland Ave.
Madison, WI 53705
(608) 263-3301 | (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.

Clinic Goals

  • 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