University of Nebraska Medical Center

Inherited Metabolic Diseases

Doctor examining patient's leg on examination table

The Division of Inherited Metabolic Diseases is dedicated to the diagnosis and treatment of children with inborn errors of metabolism and related genetic diseases. The division has a broad mission to investigate the etiology and pathogenesis of inherited metabolic diseases at laboratory and clinical levels with the hope that this knowledge will lead to new approaches of preventing and ameliorating symptoms.

Research in the division involves both laboratory and clinical studies with an emphasis on disorders of lipid metabolism and bone diseases. Dr. William Rizzo, chief of the Division of Inherited Metabolic Diseases, serves as the Principal Investigator for the Sterol and Isoprenoid Diseases Consortium funded by the National Institutes of Health. This consortium conducts clinical investigations for patients with Smith-Lemli-Optiz Syndrome, Mevalonate Kinase Deficiency, Sjögren-Larsson Syndrome, Sitosterolemia, Cerebrotendinous Xanthomatosis and other related Diseases. The division is a referral center for patients with osteogenesis imperfecta and related brittle bone diseases.

Contact Information

Mailing Address
Department of Pediatrics
Inherited Metabolic Diseases
985456 Nebraska Medical Center
Omaha, NE 68198-5456