C5-DC Acylcarnitine, Quantitative, Random, Urine
Use
Urine glutarylcarnitine (C5‑DC) is a specific biochemical marker for glutaric aciduria type 1 (GA‑1), including in low‑excretor patients with normal urinary glutaric acid levels. This test is useful for evaluating patients with abnormal newborn screens showing elevations of glutarylcarnitine and supports diagnosis of GA‑1 deficiency. GA‑1 is an autosomal recessive disorder of glutaryl‑CoA dehydrogenase, associated with neurologic injury, dystonia, and macrocephaly; early diagnosis allows dietary and acute illness interventions to prevent neurologic injury. Important clinical context—particularly family history, diet, and L‑carnitine supplementation—impacts interpretation.
Special Instructions
Not provided.
Limitations
Urine acylcarnitine results may be affected if the patient is receiving L‑carnitine supplements, which can reduce test informativeness. Analytical performance is based on laboratory‑developed method (FIA‑MS/MS) under CLIA without FDA clearance. All specimens will be evaluated for test suitability upon receipt.
New York Approved
Methodology
Mass Spectrometry (LC‑MS/MS)
Biomarkers
Glutarylcarnitine (C5‑DC)
Analyte
LOINC Codes
- 54279-5 - Glutarylcarn/Creat Ur-sRto
- 54279-5 - Glutarylcarn/Creat Ur-sRto
- 59462-2 - Clinical biochemist review
Result Turnaround Time
2-5 days
Related Documents
For more information, please review the documents below
Specimen
Urine
Volume
5 mL
Minimum Volume
1 mL
Container
Clean, plastic urine collection container; plastic 10‑mL urine tube
Collection Instructions
Collect a random urine specimen; freeze immediately
Patient Preparation
Discontinue L‑carnitine supplementation at least 72 hours before collection, if clinically feasible
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 24 hours |
| Frozen | 7 days |