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Test ID: Acylcarnitine Quantitative Urine
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Acylcarnitine Quantitative Urine
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Test Order Name (as Registered in Cerner) Acylcarnitine Quantitative Urine: The required Acylcarnitine (Marker) must be selected from the dropdown values of C4, C5OH, C5DC. If more than one marker is required, another test request must be submitted. The requesting physician/ Clinician must check a box that the patient has received / not received L-carnitine supplements for the past 72 hours.
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Useful For
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This test complements Plasma Aylcarnitines and Urine organic acids in diagnosis and differentiation of of C5DC, C4 and C5OH related metabolic disorders.
Follow up test to further investigate abnormal levels of C5OH, C5DC or C4 acylcarnitine in newborn screening blood spots or plasma
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Method name and description
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Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)
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Clinical information
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- C5-DC Acylcarnitine Urine: Glutaric acidemia type I Evaluation /Diagnosis especially low excerptors.
- C4 Acylcarnitine Urine: Aids in the differential isobutyryl-CoA dehydrogenase (IBD) deficiencies and short-chain acyl-CoA dehydrogenase (SCAD).
- C5-OH Acylcarnitine Urine: Elevated in patients with 3-methylcrotonyl-CoA carboxylase (3MCC), 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency; ß-ketothiolase deficiency; multiple carboxylase deficiency (MCD) including biotinidase deficiency and holocarboxylase synthetase deficiency, 2- methyl-3-hydroxybutyric acidemia (2M3HBA), and 3-methylglutaconic aciduria (3MGA). May be useful in differentiating patients with 3-MCC and with 3-MGA as they typically excrete larger amounts of C5-OH in urine compared to patients with the other diagnoses related to elevated C5-OH in plasma or Dried blood spot.
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Specimen type / Specimen volume / Specimen container
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Random urine.
Specimen Volume: 5 ml (1 ml Minimum volume).
Container/Tube: Plain urine Container, place immediately on ice after collection.
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Collection instructions / Special Precautions / Timing of collection
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Patient preparation: If clinically feasible, discontinue L-carnitine supplementation at least 72 hours before specimen collection.
Urine acylcarnitines results are typically not informative if the patient is receiving levocarnitine supplementation
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Storage and transport instructions
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Send specimen immediately to HMC lab Central Processing (CP) areas 24/7.
Lab Note:
Freeze specimen immediately , Send cold.
Metabolic lab Receiving time: Sunday -Thursday 7:00 AM - 02:00 PM.
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Specimen Rejection Criteria
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- Inadequate patient identification (HC& Name).
- Room temperature specimens.Call Metabolic lab before rejection or cancelling the Order in CIS.
- Sample collected in Wrong container
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Biological reference intervals and clinical decision values
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C5-DC Acylcarnitine Urine ≤1.54 mmol/mol creatinine
C4 Acylcarnitine Urine ≤ 3.00 mmol/mol creatinine
C5-OH Acylcarnitine Urine ≤ 2.93 mmol/mol creatinine
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Turnaround time / Days and times test performed / Specimen retention time
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Turnaround time : 7 Working days
Days and times test performed: Sunday to Thursday
Specimen retention time: One Month.
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