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Table 3 Abnormal MS/MS results of fatty acid oxidation disorders

From: Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China

Fatty acid oxidation disorders (n = 11) n (%) Age at Diagnosis (day) Abnormal parameter Concentration mean (range)(μmol/l) Reference range (μmol/l) Mutated gene
Primary carnitine deficiency(PCD) 8(72.7) 25-76 C0 4.32(2.40-6.43) 10-55 SLC22A5
Medium-chain acyl-CoA dehydrogenase (MCAD) 2(18.2) 45-49 C8 2.07(0.63-3.51) 0.01-0.15 ACADM
C10 0.18(0.15-0.21) 0.02-0.22
Short-chain acyl-CoA dehydrogenase (SCAD) 1(9.1) 102 C4 1.94 0.07-0.45 ACADS