Table 2.

Diagnostic acylcarnitine parameters.

Disorder (no. of cases)Diagnostic mass (m/z) ratio12Acylcarnitine components of peak-height ratioUpper cutoff (99.5 pctl.)3Abnormal value, (range)4
MCAD (4)316 /347C6/d3-C80.220.49 (0.44–0.53)
344 /347C8/d3-C80.2552.48 (0.73–5.67)
370 /347C10:1/d3-C80.120.25 (0.12–0.36)
SCAD/EMA (5)288 /260C4/C20.110.55 (0.21–0.94)
288 /347C4/d3-C81.292.90 (1.45–4.65)
302 /260C5/C20.090.22 (0.11–0.33)
302 /347C5/d3-C80.791.69 (0.79–2.24)
LCAD/VLCAD (3)424 /459C14:2/d3-C160.120.28 (0.21–0.386)
426 /456C14:1/C160.110.79 (0.38–1.36)
426 /459C14:1/d3-C160.221.49 (1.32–1.75)
GA-II (6)302 /260C5/C20.090.28 (0.23–0.33)
316 /347C6/d3-C80.224.50 (0.32–16.35)
344 /347C8/d3-C80.2554.73 (0.41–20.83)
372 /347C10/d3-C80.255.66 (0.42–25.13)
388 /347Glutaryl-/d3-C80.120.87 (0.143–1.91)
HMG (11)318 /347Hydroxy-C5/d3-C80.444.27 (0.88–8.72)
402 /347Methylglutaryl-/d3-C80.100.34 (0.15–0.71)
BKT (3)300 /347C5:1/d3-C80.060.32 (0.22–0.41)
318 /347Hydroxy-C5/d3-C80.440.89 (0.69–1.10)
PPA/MMA (30)274 /260C3/C20.351.72 (0.54–5.50
MCD (3)274 /260C3/C20.350.45, 0.68
318 /347Hydroxy-C5/d3-C80.442.66 (0.64–4.84)
IVA (5)302 /260C5/C20.092.22 (0.66–4.00)
302 /347C5/d3-C80.7919.9 (6.68–4.42)
GA-I (9)388 /347Glutaryl-/d3-C80.120.86 (0.45–1.30)