TABLE 3.

Results of tandem mass spectrometry in 49 children with genetic metabolic diseases (μmol/L).

IEM	Cases	Reference result	Reference value	Preliminary screening results M (min∼max)	Re-examination results M (min∼max)
PKU	6	Phe	24.0–116.0	378.3 (201–1000.5)	376.9 (230.5–789.3)
		Phe/Tyr	0.2–2.0	10.24 (3.02–25.6)	14.64 (4.77–20.12)
CTLN2	5	Cit	5–41	236.2 (128.3–365.7)	240.12 (134.8–345.7)
		Met	5–38	129.0 (94.0–181.5)	145.5 (124.5–163.2)
OTC	2	Cit	5–41	1.85 (1.6–2.1)	2.05 (1.8–2.3)
		Cit/Phe	0.14–0.72	0.095 (0.09–0.10)	0.075 (0.06–0.09)
CPS1	1	Cit	5–41	2.4	2.8
HCY	1	Met	5–38	152.6	480
		Met/Phe	0.25–1.2	2.65	3.20
H-TYR	1	Tyr	45–260	526.0	498.2
		Phe/Tyr	0.2–2.0	0.12	0.14
PCD	14	C0	9.0–55.0	2.83 (0.74–5.45)	3.95 (1.07–5.82)
SCADD	4	C4	0.06–0.50	1.99 (1.69–2.49)	2.06 (1.02–2.84)
		C4/C2	0–0.03	0.09 (0.069–0.114)	0.11 (0.062–0.169)
MCADD	1	C8	0.01–0.24	1.89	3.53
		C8/C2	0–0.1	0.19	0.42
CPT2	1	C16	0.3–5.7	24.2	28.6
		C18	0.14–1.86	4.35	5.02
		C18:1	0.30–2.9	4.65	4.36
		(C16 + C18:1)/C2	0.07–0.40	14.0	13.8
MADD	1	C4	0.06–0.50	2.59	2.64
		C5	0.04–0.50	6.98	7.32
		C6	0.01–0.10	0.62	0.56
		C8	0.01–0.24	1.24	1.12
		C10	0.01–0.30	1.70	1.58
		C12	0.02–0.30	1.92	1.56
		C14	0.05–0.40	2.44	2.68
IVA	4	C5	0.04–0.50	7.5 (5.6–11.6)	5.90 (4.32–8.96)
		C5/C2	0–0.03	0.57 (0.35–0.74)	0.66 (0.48–0.83)
GA-1	3	C5DC	0.01–0.2	1.75 (0.98–2.70)	2.34 (1.58–3.78)
		C5DC/C8	0.2–3.0	65.9 (17.5–139.9)	69.8 (26.5–120.0)
MMA	2	C3	0.35–4.2	8.83 (8.70–8.96)	11.1 (8.32–13.87)
		C3/C2	0.04–0.25	0.94 (0.56–1.32)	0.69 (0.62–0.76)
		C3/C0	0.03–0.25	1.33 (0.46–2.2)	0.56 (0.51–0.61)
PA	2	C3	0.35–4.2	9.67 (9.61–9.73)	8.30 (7.82–8.78)
		C3/C2	0.04–0.25	2.24 (1.53–2.94)	1.16 (0.85–1.46)
		C3/C0	0.03–0.25	1.57 (1.06–2.08)	1.58 (1.46–1.69)
HMGCLD	1	C5-OH	0.05–0.6	2.38	2.51
		C5-OH/C3	0.02–0.4	4.65	1.02