1.For nutritional assessment, patient should fast overnight (12-24 hours); for patients with a suspected fatty acid oxidation disorder, collect prior to next feeding as fasting is contraindicated.
2. Patient must not consume any alcohol for 24 hours before the specimen is drawn.
For nutritional assessment, a 12- to 14-hour fast is required; however, patients suspected of having a fatty acid oxidation disorder should not fast before testing owing to the possibility of acute metabolic decompensation. Instead, collect the specimen after the longest fast possible, just before feeding. In the case of a patient on total parenteral nutrition (TPN), specimen can be collected as normal.
Mitochondrial beta-oxidation is the main source of energy to skeletal and heart muscle during periods of fasting. When the body's supply of glucose is depleted, fatty acids are mobilized from adipose tissue and converted to ketone bodies thorough a series of steps providing an alternate source of energy. Deficient enzymes at any step in this pathway prevent the production of energy during periods of physiologic stress such as fasting or intercurrent illness.
The major clinical manifestations associated with fatty acid oxidation (FAO) disorders include hypoketotic hypoglycemia, liver disease and failure, skeletal myopathy, dilated/hypertrophic cardiomyopathy, and sudden unexpected death in early life. Signs and symptoms may vary greatly in severity, combination, and age of presentation. Life-threatening episodes of metabolic decompensation frequently occur after periods of inadequate calorie intake or intercurrent illness. When properly diagnosed, patients with FAO disorders respond favorably to fasting avoidance, diet therapy, and aggressive treatment of intercurrent illnesses, with significant reduction of morbidity and mortality.
Disease-specific characteristic patterns of metabolites from FAO disorders are detectable in blood, bile, urine, and cultured fibroblasts of living and many deceased individuals. Quantitative determination of C8-C18 fatty acids is an important element of the workup and differential diagnosis of candidate patients. Fatty acid profiling can detect quantitatively modest, but nevertheless significant, abnormalities even when patients are asymptomatic and under dietary treatment. Confirmatory testing for many of the FAO disorders is also available via FAO / Fatty Acid Oxidation Probe Assay, Fibroblast Culture and molecular analysis.