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Evaluation of patients with abnormal newborn screens showing elevations of iso-/butyrylcarnitine (C4) to aid in the differential diagnosis of short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies
Useful for differentiating the potential diagnoses of short chain acyl-CoA dehydrogenase (SCAD) versus isobutyryl-CoA dehydrogenase deficiency. The results are not informative when patient is receiving L-carnitine supplements.
Elevated iso-/butyrylcarnitine (C4) in plasma or newborn screening blood spots is due to either short chain acyl-CoA dehydrogenase (SCAD) deficiency or isobutyryl-CoA dehydrogenase (IBD) deficiency.
Urine C4 results can distinguish between SCAD deficiency, which results in normal C4 in urine, and IBD deficiency, which results in elevated C4 in urine.
If patient is receiving L-carnitine supplementation, the result of this urine acylcarnitine test will not be informative.
See Newborn Screening Follow-up for Isolated C4 Acylcarnitine Elevations (also applies to any plasma C4 acylcarnitine elevation) in Special Instructions.
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)