Genetics and Metabolism

Some genetic conditions cause birth defects, problems in growth or intellectual development, or health problems ranging from familial cancer to inherited changes in metabolism, the chemical reactions that your body needs to provide energy and maintain life.

Some inherited metabolic disorders are diagnosed through newborn screening. Others aren’t apparent until they develop into a medical condition. Medical genetics professionals diagnose and treat inherited metabolic disorders.

Specialists in genetics and metabolism with University of Minnesota Health have many years of experience in diagnosing and treating genetic disorders and inherited metabolic conditions. Medical geneticists are physicians who provide diagnosis and treatment for genetic conditions. They are certified by the American Board of Medical Genetics.

Multidisciplinary teams that can include medical genetics physicians, nurse practitioners, genetic counselors, metabolic dietitians and neuropsychologists treat M Health adult and pediatric patients with a genetic or metabolic disorder.

Our genetics services providers are also actively involved in clinical and academic research, public health, scientific collaborations and education. Our program is the primary program in Minnesota to diagnose and care for people with inherited metabolic conditions across their lifespan.

The Genetics and Metabolism team at University of Minnesota Health treat Fragile X Syndrome, Medical assessment of autism, Fatty acid oxidation disorders, Amino acid disorders, Organic acidemias, Urea cycle disorders, Lysosomal disorders, Loeys-Dietz syndrome, Stickler syndrome, RAS pathway disorders, Costello syndrome, CFC syndrome, Skeletal dysplasia, Hemihypertrophy, and Beckwith Wiedemann syndrome, as well as: