Carnitine (free and total), plasma
Clinical Background:
Carnitine is required for transport of long-chain fatty acids into the mitochondria for β-oxidation. Primary carnitine deficiency is caused by impaired function of the carnitine transporter protei...
Carnitine is required for transport of long-chain fatty acids into the mitochondria for β-oxidation. Primary carnitine deficiency is caused by impaired function of the carnitine transporter protein OCTN2 resulting in renal loss of carnitine, low plasma concentrations and low intracellular carnitine potentially leading to impaired fatty acid oxidation.
Secondary carnitine deficiency may be found in patients with fatty acid oxidation disorders and other organic acidaemias, following treatment with some medications and in patients on parenteral nutrition or a ketogenic diet.
Measurement of plasma free & total carnitine is used in the investigation of primary carnitine deficiency. Comparison with urine carnitine results in a paired sample can determine whether there is impaired carnitine reabsorption.
In some cases, plasma free & total carnitine analysis may be indicated in investigation of secondary carnitine deficiency.
Requests for carnitine analysis should include information on current drug therapy including whether the patient is taking carnitine supplementation.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Lithium heparin plasma
Lithium heparin plasma
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Specimen Container Paediatric:
Lithium heparin plasma
Lithium heparin plasma
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Minimum Volume Adult:
2 mL blood
2 mL blood
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Minimum Volume Paediatric:
1 mL blood
1 mL blood
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Sample Stability:
Samples may be sent by 1st class post to reach the laboratory within 48 hours of collection. On arrival samples should be stored at -20°C or lower if there is a delay in analysis. Free and total ca...
Read MoreSamples may be sent by 1st class post to reach the laboratory within 48 hours of collection. On arrival samples should be stored at -20°C or lower if there is a delay in analysis. Free and total carnitine is stable at -20°C for up to 3 months and at -80°C for up to 6 months
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Interpretation:
Carnitine is required for the transfer of long-chain fatty acids into mitochondria for b-oxidation. Carnitine also facilitates the removal of excess acyl-CoA esters (i.e. intermediates of fatty aci...
Read MoreCarnitine is required for the transfer of long-chain fatty acids into mitochondria for b-oxidation. Carnitine also facilitates the removal of excess acyl-CoA esters (i.e. intermediates of fatty acids oxidation, branched-chain amino acid metabolism and drug metabolites) out of the mitochondrial compartment for detoxification and excretion in the urine. Inborn errors of metabolism in which acyl-CoA esters accumulate are associated with increased acylcarnitine concentrations in tissues and blood, and greatly increased urinary excretion of acylcarnitines. The increased excretion of acylcarnitines in the urine is also associated with the excessive loss of free carnitine (inhibition of tubular reabsorption). The chronic loss of free and acylated carnitine into the urine can lead to depletion of tissue stores of L-carnitine and secondary carnitine deficiency. Primary carnitine deficiency is an inborn defect of carnitine uptake into tissues and cells. Patients with this condition have very low levels of tissue and plasma free carnitine and total carnitine. The relative distribution of free carnitine and carnitine esters may vary according to fasting status, renal function, muscular exercise and as a result of a defect of acyl-CoA metabolism. Acylcarnitine fraction tends to increase with fasting or under the conditions of catabolic stress.
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Reference Ranges:
< 4 weeks of age
Free carnitine: 11.2 - 18.2 mmol/L
Total carnitine: 17.0 - 26.0 mmol/L
% Acylated: 28.7 - 35.3
> 4 weeks of age
Free car...
Read More< 4 weeks of age
Free carnitine: 11.2 - 18.2 mmol/L
Total carnitine: 17.0 - 26.0 mmol/L
% Acylated: 28.7 - 35.3
> 4 weeks of age
Free carnitine: 23 - 52 mmol/L
Total carnitine: 27 - 63 mmol/L
% Acylated: <40
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Other Info:
EDTA plasma and serum samples are also acceptable
EDTA plasma and serum samples are also acceptable
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Routine Contact Name:
Duty biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: