Carnitine Uptake Defect (CUD)


Carnitine uptake defect (CUD) is an inborn error of metabolism, an inherited condition in which a carnitine transporter found in the body cannot bring enough carnitine into the cells. Carnitine is a substance made in the body and it can also be found in the diet. Carnitine helps move certain fatty acids into a part of the cells to help the body make energy, and it also helps move toxic substances out of a part of the cells to prevent them from building up. CUD is considered a fatty acid oxidation condition because people affected by CUD have problems using fat as energy for the body. Symptoms of CUD can vary and may include poor feeding, low blood sugar (hypoglycemia), extreme tiredness/lethargy, muscle weakness, liver problems, heart problems, and/or other potential signs and symptoms. CUD can be a life-threatening condition. Management often includes medication/supplements, avoidance of prolonged fasting, and may include other special precautions and emergency recommendations. Support groups are available to help connect families living with CUD with others who have experience or expertise with this condition.

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. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.