Acylcarnitine C4, Ur




Test Mnemonic

UC4

CPT Codes

  • 82017 - QTY (1)

LOINC ®

53111-1

Aliases

  • Butyrylcarnitine
  • IBDH (Isobutyryl-CoA Dehydrogenase) Deficiency
  • Isobutyryl
  • Isobutyrylcarnitine
  • Isobutyryl-CoA Dehydrogenase (IBDH) Deficiency
  • Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency

Includes

  • C4 Acylcarnitine, QN, U

Performing Laboratory

Mayo Clinic Dpt of Lab Med & Pathology


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
5 mLUrine, randomClean containerRefrigerate ASAPFrozenCollect urine in clean plastic container. Please include family history, clinical condition, diet and drug therapy, if any. Freeze immediately.

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
1 mL     

Stability

Environmental Condition Description
AmbientUnacceptable
Refrigerated24 hours
Frozen1 week

Days Performed

Mon, Wed, Fri

Turnaround Time

3 - 6 days (Not reported on Sunday)

Methodology

Name Description
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS) 

Reference Range

Acylcarnitine C4, Ur
Sex Age From Age To Type Range Range Unit
       Normal< 3.00mmol/mol crt

Special Info

If clinically feasible, discontinue L-carnitine supplementation at least 72 hours before specimen collection. This test is New York DOH approved.

Clinical Info

Almost all patients with isobutyryl-CoA dehydrogenase deficiency excrete an abnormal amount of C4 in their urine. Some, but not all, affected individuals also excrete elevated levels of isobutyrylglycine. Conversely, patients with short-chain acyl-CoA dehydrogenase deficiency can have a normal excretion of C4.