קוד CPT
82017
תיאור הבדיקה
Acyl Carnitine, Profile DBS
שמות נוספים לבדיקה
AcylCarnitine, פרופיל אציל קרניטין, בדם יבש
לאבחנה/טיפול
Diagnosis of fatty acid oxidation disorders (FAODs), Detection of Organic Acid Metabolism Disorders, monitoring of patients with inborn errors of metabolism
שיטת ביצוע הבדיקה
LCMSMS
מגבלות השיטה
Acylcarnitine analysis may be normal when the patient is well and metabolically stable. Specimens collected even after a partial recovery may not reveal diagnostic abnormalities that are more readily detectable, under acute conditions. In some patients, an abnormal acylcarnitine pattern is only found during metabolic decompensations or after a prolonged exercise test. Dietary factors such as medium-chain triglyceride (MCT) –containing formulas, fasting, ketogenic diet, carnitine supplementation, and total parenteral nutrition may influence acylcarnitine profiles.
