Carnitine Uptake Defect (CUD)


Carnitine uptake defect (CUD) is an inherited condition in which the body cannot bring enough carnitine, a substance that helps the body make energy from fats, into the cells. CUD is considered a fatty acid oxidation condition because people affected by CUD are unable to break down certain fats to use for energy. This can result in a build-up of unused fatty acids. The severity of this condition varies among affected individuals. If untreated, CUD can cause heart failure, liver problems, brain damage, or death. With early detection and treatment, individuals with CUD can often lead healthy lives.

This condition is also known as: carnitine transport defect, CUD, carnitine transporter deficiency, carnitine uptake deficiency, renal carnitine transport defect, systemic carnitine deficiency.

To learn more about Carnitine uptake defect, visit Screening, Technology, and Research in Genetics (STAR-G): Carnitine transporter deficiency and Baby's First Test: Carnitine uptake defect. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Board Certified Metabolic Providers (PDF: 2 pages/204KB) for a listing of medical specialists and clinic contact information.