Find Support With:
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, CACT 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. If this additional test still indicates that your baby may have CACT, genetic testing will be needed.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with CACT Deficiency.
About CACT Deficiency
CACT deficiency is a condition in which the body is unable to use certain fats for energy.
Babies with CACT are at risk for an enlarged, weak heart, an enlarged liver, low blood sugar, coma, or death. However, if CACT Deficiency is detected early, proper treatment can help control or lessen some of these symptoms.
Frequency
CACT Deficiency is very rare and has been documented in only a small number of babies in the United States.
Condition Type
CACT Deficiency is a Fatty Acid Oxidation Disorder.
Also Known As
C16, CAC, CACT, Carnitine Acylcarnitine Carrier Deficiency, Carnitine Acylcarnitine Translocase Deficiency, CAT Deficiency