Carnitine - plasma or serum

Last updated: Thursday, 08, April, 2004

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Item Process
Specimen

5 mL blood in lithium heparin or plain tube.

Method

Radiometric, spectrophotometric assay.

Reference Interval

Free: 30-70 µmol/L

Total: 40-80 µmol/L

Application

Investigation of carnitine-deficient states, either primary (due to decreased intake, impaired synthesis or impaired renal reabsorption) or secondary (due to organic acidaemias).

Severe carnitine deficiency may be associated with hypoglycaemia, myopathy or cardiomyopathy.

Interpretation

Hypoglycaemia, muscle weakness and cardiomyopathy do not occur until the level is less than 10 µmol/L.

In carnitine deficiency secondary to organic acidaemias, there is a relatively greater reduction in free carnitine.

Reference

Engel AG and Rebouche CJ. J Inher Metab Dis 1984; 7: 38-43