Inborn Errors of Metabolism

Inborn errors of metabolism are rare genetic (inherited) disorders where the body cannot properly convert food into energy. This group of disorders are commonly caused by defects in specific enzymes that help break down food. The large number of inborn errors of metabolism, the complexity of these disorders and the wide variety of symptoms present a serious challenge to even the most highly trained and experienced pediatrician.

Recognizing this need, UPMC Children’s Hospital of Pittsburgh established a specialized program within the Division of Medical Genetics devoted to addressing inborn errors of metabolism, which are inherited disorders caused by a defect in a single gene. These include organic acidurias, fatty acid oxidation defects, urea cycle disorders, mitochondrial disease, and galactosemia, among others.

Researchers are conducting the Inborn Errors of Metabolism Registry. Through this study, researchers will be collecting and analyzing data about patients with conditions related to inborn errors of metabolism. The study collects observational and standard-of-care data but does not involve any treatment or intervention. Analysis may lead to insights that will help physicians learn more about treating people with these conditions. Additionally, the database will help researchers identify and recruit patients eligible for participation in future studies.

Principal Investigator

Jerry Vockley, MD, PhD