Metabolic disorders, individually, are rare, but taken altogether they account for one in 500 newborns in the United States.  In general, metabolic conditions are severe and often go undiagnosed.  There is no cure for many of them, but treatment, if available and if the condition is diagnosed early enough, can have a meaningful impact on the children and families affected by metabolic disorders.

Fortunately for families in Southern California, CHOC is one of the few centers in the world with the team, equipment and expertise needed to diagnose and treat children with metabolic disorders.  Under the direction of Dr. Jose’ Abdenur, medical director of Metabolic Services at CHOC and chief of the PSF Division of Metabolic Disorders, CHOC’s team takes care of an increasing number of patients with a variety of metabolic diseases. The Metabolic Laboratory provides state-of-the art support for the diagnosis and management of these patients, and is key to conducting valuable research . 

According to Dr. Abdenur, “CHOC is searching for better ways to detect and treat these diseases, which left undiagnosed can cause mental retardation and are ultimately fatal. The work being done by the metabolic team at CHOC is helping to save more children’s lives.”

Share your story | More Stories | Get Involved | Make a Donation Now