News Story Ideas
Genetics
To schedule interviews, please contact Children’s media team.
Inborn Errors of Metabolism
Inborn errors of metabolism occur when a single gene is defective. There are hundreds of different inborn errors of metabolism (with more discovered every year). The complexity of these disorders, and the vast array of symptoms, make them extremely challenging to diagnose and treat accurately. Inborn errors of metabolism are rare on an individual basis but collectively are common, affecting as many as three of every 1,000 babies born. They include organic acidurias, fatty acid oxidation defects, urea cycle disorders, mitochondrial disease and galactosemia, among others.
Under the leadership of one of the nation’s leading geneticists, Gerard Vockley, MD, PhD, chief of the Division of Medical Genetics at Children’s Hospital of Pittsburgh, has established the region’s first and only Inborn Errors of Metabolism Clinic. The clinic provides diagnosis, evaluation, treatment, management, genetic counseling and support services to children with inborn errors and their families.
