CARNITINE - plasma or serum
Specimen: 5 mL blood
in lithium heparin or plain tube.
Method: Radiometric, spectrophotometric assay.
Reference Interval:
|
Free:
|
30-70 µmol/L
|
|
Total:
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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.