Carnitine palmitoyltransferase II deficiency (CPT II) is a long-winded way of describing a fatty acid oxidation disorder that prevents the body from using fat.
It’s caused by enzymes that aren’t properly functioning, and the most serious type is often fatal for infants.
CPT II has three forms:
- lethal neo-natal
- infantile hepatocardiomuscular
- myopathic
Early detection is extremely important because finding the right treatment can mitigate some of the more devastating symptoms in an infant.
When is the best time for a child to be tested for CPT II? Right after birth.
Newborn testing is the first step, but not the last step. If a child tests results are out-of-range, it may be caused by a blood sample that was too small, and further tests may show the child does not have CPT II.
Follow-up tests should be performed within a short amount of time because if the positive diagnosis is correct, treatment can begin immediately.
Some of the symptoms in babies include:
- weak muscle tone
- poor appetite
- seizures
- developmental delays
- trouble breathing
If your child has any of those symptoms, contact his or her doctor immediately!
