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