Table 2.

Biomarker cut-offs for OAs and FAODs.

Disorder	Cut Off Marker (µmol/L)	Cut Off Marker Molar Ratio
Propionic aciduria (PA)	C3 > 2.46	C3/C0 > 0.08 C3/C2 > 0.14
Methylmalonic aciduria (MMA)	C3 > 2.46 C4DC > 0.86	C3/C0 > 0.08 C3/C2 > 0.14
Glutaric aciduria type 1 (GA I)	C5DC > 0.45
Glutaric aciduria type 2 (GA II)	C4 > 0.94 C5 > 0.33
Isovaleric aciduria (IVA)	C5 > 0.33
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMG)	C5OH > 0.5 C6DC > 0.1
β-ketothiolase deficiency (BKT)	C5:1 > 0.07
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)	C5OH > 0.51
3-methyl glutaconic aciduria (3-MGA)	C5OH > 0.51
Ethylmalonic encephalopathy (EE)	C4 > 0.94 C5 > 0.33
Malonic aciduria	C3DC > 0.15
Medium chain acyl-CoA dehydrogenase deficiency (MCAD)	C8 > 0.24 C6 > 0.14 C10:1 > 0.49	C8/C2 > 0.01 C8/C10 > 2.17
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)	C14:1 > 0.18 C12:1 > 0.13 C12 > 0.22 C14:2 > 0.08 C14 > 0.37	C14:1/C12:1 > 4.53
Long chain hydroxy acyl-CoA dehydrogenase (LCHAD)	C16-OH > 0.08 C18:2-OH > 0.06 C18:1-OH > 0.07 C14-OH > 0.06 C16:1-OH > 0.12
Carnitine palmitoyltransferase deficiency type 1 (CPT 1)	C0 > 52.98 C16 < 0.38 C18 < 0.23	C0/C16 + C18 > 37.48
Carnitine palmitoyltransferase deficiency type 2 (CPT 2)	C18 > 1.18 C18:2 > 0.8 C18:1 > 1.92 C16:1 > 0.4 C16 > 2.94 C0 < 13.63	C16+ C18:1/C2 > 0.27
Carnitine-acylcarnitine translocase deficiency (CACT)	C16 > 2.94 C18:1 > 1.92 C18:2 > 0.8 C18 > 1.18 C0 < 13.63
Carnitine uptake defect (CUD)/Primary carnitine deficiency (PCD)	C0 < 5
Short chain acyl-CoA dehydrogenase deficiency (SCAD)	C4 > 0.94