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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, CPT2 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 CPT2, genetic testing will be needed.
The Metabolic Clinic at Primary Children’s Hospital cares for babies diagnosed with CPT2 Deficiency.
About CPT2 Deficiency
CPT2 deficiency is a condition in which the body is unable to use certain fats for energy. There are three types of CPT2 and they vary by severity and the age and at which symptoms begin.
If CPT2 is not treated, severe heart, liver and kidney problems, brain damage, and even death can occur. However, if CPT2 is detected early and proper treatment is begun, some of these symptoms can be lessened.
Frequency
CPT2 Deficiency is very rare and has been documented in only a small number of babies in the United States.
Condition Type
CPT2 Deficiency is a Fatty Acid Oxidation Disorder.
Also Known As
CPTII, Carnitine Palmitoyltransferase Type II Deficiency, Carnitine Palmitoyl Transferase II Deficiency, C16