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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, CPT1 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 CPT1 Deficiency.
About CPT1 Deficiency
CPT1 deficiency is a condition in which the body is unable to use certain fats for energy. Symptoms related to CPT1are often triggered by periods of fasting or by illnesses such as a cold or the flu.
If untreated, CPT1 can cause heart, liver, and kidney problems, learning disabilities, and developmental delays. However, if the condition is detected early and proper treatment is begun, children with CPT1 often lead healthy lives.
Frequency
CPT1 Deficiency is rare in the general population. Fewer than 50 people have been reported to have CPT1 Deficiency. The frequency is very high in the native Alaskan population (approximately 1.3 in 1,000).
Condition Type
CPT1 Deficiency is a Fatty Acid Oxidation Disorder.
Also Known As
Arctic Variant CPT-1A, C0, Carnitine Palmitoyltransferase Deficiency Type 1A, Carnitine Palmitoyltransferase I Deficiency, CPT-1A