Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders
Monitoring carnitine treatment
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Carnitine and its esters are required for normal energy metabolism and serve 4 primary functions:
-Importing long-chain fatty acids into the mitochondria
-Exporting naturally occurring short-chain acyl-CoA groups from the mitochondria
-Buffering the ratio of free CoA to esterified CoA
-Removing potentially toxic acyl-CoA groups from the cells and tissues
Evaluation of carnitine in serum, plasma, tissue, and urine screens patients for suspected primary disorders of the carnitine cycle, or secondary disturbances in carnitine levels as a result of organic acidemias and fatty acid oxidation disorders. In the latter, acyl-CoA groups accumulate and are excreted into the urine and bile as carnitine derivatives, resulting in a secondary carnitine deficiency. More than 100 such primary and secondary disorders have been described. Individually, the incidence of these disorders varies from <1 in 10,000 to >1 in 1,000,000 live births. Collectively, their incidence is approximately 1 in 1,000 live births. Primary carnitine deficiency has an incidence of approximately 1 in 21,000 live births based on Minnesota newborn screening data.
Other conditions which could cause an abnormal carnitine level include neuromuscular diseases, gastrointestinal disorders, familial cardiomyopathy, renal tubulopathies and chronic renal failure (dialysis), and prolonged treatment with steroids, antibiotics (pivalic acid), anticonvulsants (valproic acid), and total parenteral nutrition.
Follow-up testing is required to differentiate primary and secondary carnitine deficiencies and to elucidate the exact cause.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
77-214 nmol/mg of creatinine
180-412 nmol/mg of creatinine
Acyl to free: 0.7-3.4
When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Increased values may be obtained after carnitine supplementation or meat consumption.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Chalmers RA, Roe CR, Stacey TE, et al: Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Ped Res 1984;18:1325-1328
2. Magoulas PL, El-Hattab AW: Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet Journal of Rare Diseases 2012,7:68 Available from URL: http://www.ojrd.com/content/7/1/68. Accessed 1/22/15
3. Longo N, Amat di San Filippo C, Pasquali M: Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet 2006;142C(2):77-85
4. Zammit VA, Ramsay RR, Bonomini M, Arduini A: Carnitine, mitochondrial function and therapy. Adv Drug Deliv Rev 2009;61(14):1353-62