Description:
The Waisman Center Clinics provide comprehensive clinical care and support for children with disabilities and their families. The Waisman Center Biochemical Genetics Clinic is a partnership with UW Health and the American Family Children’s Hospital. 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), and for observed neurodevelopmental and biochemical abnormalities (e.g. 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.