New Test for Rare Inherited Metabolic Disease (CAD Deficiency) Identifies Children Who May Benefit from Simple Supplement of Uridine; Only 17 in World Known to Have Life-Threatening CAD Deficiency

Scientists at the Sanford Burnham Prebys Medical Discovery Institute in La Jolla, California, and the Centro de Biología Molecular Severo Ochoa in Madrid, Spain have created a test that determines which children with CAD deficiency—an extremely rare, inherited metabolic disease—are likely to benefit from receiving uridine (, a nutritional supplement that has dramatically improved the lives of other children with the condition. In the body, uridine is a key nucleoside that is one of the four nucleosides found in RNA molecules. The CAD (image) deficiency study was published online on May 28, 2020 in Genetics in Medicine ( The open-access article is titled “Cell-Based Analysis of CAD Variants Identifies Individuals Likely to Benefit from Uridine Therapy.” “The effect of uridine for some children with CAD deficiency is nothing short of amazing. These kids go from bedridden to interacting with people and moving around,” says Hudson Freeze (, PhD, Director of the Human Genetics Program at Sanford Burnham Prebys and co-corresponding author of the study. “Our results identified 11 children who have mutations in both copies of the CAD gene and would likely benefit from uridine therapy. With this test, we can provide hope to some families, while sparing others from unrealistic expectations. That’s incredibly important.”
Login Or Register To Read Full Story