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Test ID: CARNU Carnitine, Urine

Reporting Name

Carnitine, U

Useful For

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders

 

Monitoring carnitine treatment

Specimen Type

Urine


Specimen Required


Container/Tube: Plastic, 10-mL urine tube (T068)

Specimen Volume: 1.5 mL

Collection Instructions: Collect a random urine specimen.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 365 days
  Refrigerated  72 hours

Reference Values

FREE

77-214 nmol/mg of creatinine

 

TOTAL

180-412 nmol/mg of creatinine

 

RATIO

Acyl to free: 0.7-3.4

Day(s) and Time(s) Performed

Tuesday; 8 a.m.

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82379

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CARNU Carnitine, U In Process

 

Result ID Test Result Name Result LOINC Value
27121 Total 17866-5
27122 Free (FC) 22704-1
15789 AC/FC Ratio 43576-8
21550 Interpretation 59462-2

Clinical Information

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.

Interpretation

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.

Clinical Reference

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):1353-1362

Analytic Time

2 days

Method Name

Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical