Inherited Metabolic Diseases

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. Rizzo 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.