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Making a Mark
Making a Mark is published bi-annually by the CHOC Foundation. It features CHOC and children?s healthcare news, patient highlights, hospital updates, board member spotlights, and community involvement stories and is mailed to donors who support CHOC with a gift of $250 and more.

Research Spotlight:
Lesser-Known Disorders Researched at CHOC

Disorders like cancer, cerebral palsy and diabetes are often in the research spotlight, but other, lesser-known disorders also have a grave impact on children. CHOC is fortunate to have doctors in its physician practice groups, including CHOC Pediatric Subspecialty Faculty, who conduct lifesaving research on behalf of children.

Extensive research is currently being done on metabolic disorders by José Abdenur, MD, division chief and medical director of the CHOC Division of Metabolic Disorders. According to Dr. Abdenur, “there are approximately 500 different metabolic disorders, and standard newborn screening can only detect around 30 - 40 of them. We are searching for better ways to detect and treat these diseases, which left undiagnosed can cause mental retardation and are ultimately fatal.”


“ In Orange County, approximately 100 children are born
each year with a metabolic disorder. ”

Dr. Abdenur’s primary research focuses on Lysosomal Storage Disorder, an abnormal build-up of toxic materials in the body’s cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and there is currently no cure. He is working in collaboration with CHOC senior scientist Philip Schwartz, PhD, who is looking at the application of stem cells derived from blood for the treatment of these disorders. He is also performing clinical research on nutrition in fatty acid oxidation defects as a means of improving the treatment of metabolic diseases.

Another area of research at CHOC is being led by Dr. Antonio Arrieta, MD,
division chief and medical director of the CHOC Infectious Diseases Division, who is studying fungal infections in debilitated patients. Fungal infections prey on children with suppressed immune systems.

According to Dr. Arrieta, “these children have very delicate immune systems; oftentimes they are battling cancer, cystic fibrosis or prematurity. They are easy targets for fungal infections, which are very invasive. The mortality rate can be very high; up to 90% in the more aggressive strains such as Fusarium. Our job is to keep them at bay.”

Dr. Arrieta’s research focuses on the use of safer, more effective medications to treat fungal infections. He is part of the Pediatric Fungal Network, a small group of hospitals worldwide that are working together to optimize treatment protocols for fungal infections. As a result of recent research, there are now 7 - 8 drugs to treat fungal infections—there used to be only one.

“Since fungal infections can strike any child with a compromised immune system, my research concentrates on trying to prevent other specialists’ patients from dying of a fungal infection. I like to think it’s helping,” Dr. Arrieta says.


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chocChildren's Hospital of Orange County | UCI University of California, Irvine

Children's Hospital of Orange County is affiliated with UC Irvine Healthcare and UC Irvine School of Medicine

CHOC Children's - 1201 W La Veta Ave, Orange, CA. Phone: 714-997-3000. .