About

University of Minnesota Physicians provides a broad spectrum of pediatric genetic and metabolic services. Our comprehensive team, in collaboration with University of Minnesota Amplatz Children's Hospital work together to diagnose, evaluate and manage genetic diseases, birth defects and chromosomal abnormalities, especially following newborn screening. We have the only program in Minnesota that diagnoses and cares for patients with inborn errors of metabolism.

Clinical physician consultations related to genetics and metabolism are divided between our two main pediatric clinics in Minneapolis:

• Genetics, CAH and vascular anomolies are treated at
  the Explorer clinic.
• Metabolism and phenylketonuria (PKU) are treated at
  the Discovery clinic.

Treatments

We offer a variety of treatment options for the following conditions:

• Autism
• Chromosome abnormalities: (treated at the Explorer Clinic)
  
  • Down syndrome
  • Turner syndrome
  • Klinefelter syndrome
  • 22q deletion syndrome
  • Prader-Willi syndrome
• Deafness
• Failure to thrive
• Fragile X syndrome
• Genetic disorders (known or suspected): (treated at the Explorer Clinic)
  
  • Fetal abnormalities
  • Neurologic or pulmonary problems
  • Skeletal/muscular disorders
• Genetic vision loss
• Growth abnormalities
• Hypoglycemia
• Mental retardation
• Metabolic disorders: (treated at the Discovery Clinic)
  
  • Amino acid disorders
  • Fatty acid oxidation defects
  • Galactosemias
  • Glycogen storage disorders
  • Lysosomal storage disorders
  • Organic acidurias
  • Phenylketonuria (PKU)
  • Urea cycle defects
• Multiple miscarriage
• Neurofibromatosis
• Noonan syndrome 
• Persons who have a family history of birth defects