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Test ID CARN Carnitine, Plasma

Useful For

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

Method Name

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

Reporting Name

Carnitine, P

Specimen Type

Plasma

Collection Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: EDTA, lithium heparin

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Specimen Minimum Volume

0.2 mL

Specimen Stability Information

Specimen Type Temperature Time
Plasma Frozen (preferred) 60 days
  Refrigerated  21 days
  Ambient  7 days

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 disorders, 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 are 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

Total Carnitine (TC)

Free Carnitine (FC)

Acylcarnitine (AC)

AC/FC Ratio

Age Group

Range*

Range*

Range*

Range

1 day

23-68

12-36

7-37

0.4-1.7

2-7 days

17-41

10-21

3-24

0.2-1.4

8-31 days

19-59

12-46

4-15

0.1-0.7

32 days-12 months

38-68

27-49

7-19

0.2-0.5

13 months-6 years

35-84

24-63

4-28

0.1-0.8

7-10 years

28-83

22-66

3-32

0.1-0.9

11-17 years

34-77

22-65

4-29

0.1-0.9

≥18 years

34-78

25-54

5-30

0.1-0.8

*Values expressed as nmol/mL

Schmidt-Sommerfeld E, Werner E, Penn D: Carnitine plasma concentrations in 353 metabolically healthy children. Eur J Pediatr 1988;147:356-360

Used with permission of European Journal of Pediatrics, Springer-Verlag, New York, Inc., Secaucus, NJ

Cautions

Increased values may be obtained after carnitine supplementation or meat consumption.

Day(s) Performed

Monday through Friday; 8 a.m.

Report Available

2 days (not reported on Saturday or Sunday)

Performing Laboratory

Mayo Medical Laboratories in Rochester

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

NY State Approved

Conditional