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Evaluation of patients with an abnormal newborn screen showing elevations of C5-DC
Diagnosis of glutaric aciduria type 1 deficiency
Evaluation of patients with an abnormal newborn screen showing elevations of C5-DC. The results are not informative when patient is receiving L-carnitine supplements.
Elevated glutarylcarnitine (C5DC) in plasma or newborn screening blood spots is due to glutaric aciduria type 1 (GA-1), also known as glutaric acidemia type 1.
Urine C5DC is a biochemical marker of GA-1 that appears to be elevated even in low excretors, who are affected patients with normal levels of glutaric acid in urine.
If patient is receiving L-carnitine supplementation, the result of this urine acylcarnitine test will not be informative.
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)