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Abnormal Newborn Screening Results and Additional Testing
If your baby’s newborn screening results are abnormal, your baby will need to have another test. Not every abnormal result means your baby has a disorder. It is important to have quick follow-up testing. Without treatment, Primary Carnitine Deficiency can result in harmful effects soon after birth.
The Utah Newborn Screening Program will contact you and your child’s pediatrician for blood and urine testing.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with Primary Carnitine Deficiency.
About Primary Carnitine Deficiency
Individuals with Primary Carnitine Deficiency cannot bring enough carnitine into the body’s cells. Carnitine helps the body make energy from fats. This results in a buildup of unused fatty acids in the body.
If untreated, Primary Carnitine Deficiency can cause heart trouble, liver damage, breathing problems, and brain damage. However, if the condition is detected early and proper treatment is begun, affected children can have healthy growth and development.
Several women have been diagnosed with Primary Carnitine Deficiency after newborn screening identified low carnitine levels in their baby. To determine if the mother or her baby is affected, carnitine levels should be measured in both the mother and the baby.
Frequency
Primary Carnitine Deficiency affects approximately 1 in 100,000 babies in the United States.
Condition Type
Primary Carnitine Deficiency is a Fatty Acid Oxidation Disorder. It is also classified as a Mitochondrial Disorder.
Also Known As
C0, Carnitine Transport Defect, Carnitine Transporter Deficiency, Carnitine Uptake Defect, Carnitine Uptake Deficiency, CTD, CUD, Maternal Carnitine Deficiency, Primary Carnitine Deficiency, Systemic Carnitine Deficiency (SCD)