Description
Carnitine is essential for the transfer of long-chain fatty acids from the cytosol to mitochondria for subsequent β- oxidation. The lack of carnitine impairs the ability to use fat as fuel during periods of fasting or stress. Primary carnitine deficiency is a recessively inherited disorder of fatty acid oxidation due to defective carnitine transport across the sarcolemma caused by a defect in proteins essential for carnitine transport. See Also Carnitine, Free, Serum
Indications
Carnitine deficiency can result in hypoketotic hypoglycaemia, Reye’s syndrome, and sudden infant death in younger children or in skeletal or cardiac myopathy with insidious onset later in life. Carnitine is useful in the diagnosis of a number of Fatty Acid disorders.
Sample Type, Quantity & Conditions
1 ml Serum Frozen
Special Precautions
Separate serum and freeze immediately. Avoid haemolysis. Quote patient’s date of Birth
Normal Range
By Report