Pediatric Genetics and Metabolism

UMP - image - pediatrics genetics


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

Clinical consultations related to genetics and metabolism primarily occur in four different pediatric and adult clinic locations in Minneapolis:


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:
    • Amino acid disorders
    • Biotinidase deficiency
    • Fatty acid oxidation defects
    • Galactosemias
    • Glycogen storage disorders
    • Lysosomal storage disorders
    • Mitochondrial disorders
    • Organic acidurias
    • Other inborn errors of metabolism
    • Phenylketonuria (PKU)
    • Urea cycle defects
  • Multiple miscarriage
  • Neurofibromatosis
  • Noonan syndrome 
  • Persons who have a family history of birth defects


Clinics & Providers


Central Scheduling: 612.672.7422

Provider Referrals: 612.672.7000

Administrative Offices: 612.884.0600

©2014 Regents of the University of Minnesota. All rights reserved.