@ Janneke:
http://www.fodsupport.org/cpt2.htm
Individuals with this disorder may be symptom-free until they are exposed to prolonged exercise, fasting, extremes in temperature, viral infection, sleep deprivation or general anesthesia during surgery. Even though the disorder is called an "adult-onset" disease, it has been reported in people of all ages including young children.
In the recent past, CPT II deficiency could only be diagnosed by biochemical analysis of a muscle biopsy. While this remains the best specimen for a definitive diagnosis, the enzyme's activity can also be measured in white blood cells and mutation screening can be performed for the common mutations in white blood cells or buccal (cheek) cells, both relatively noninvasive specimens.
However, there are specific treatment regimens for CPT II-deficient patients, including the administration of MCT Oil (medium-chain triglycerides) or carnitine that should be established on a case by case basis under the supervision of a metabolic physician and nutritionist. Patients should not try to treat themselves without the involvement of these professionals because they may have adverse or suboptimal effects from certain treatments.