Table 5.
Clinical characteristics, screening results, and genetic analysis of 20 infants with acyl-CoA hydrogenase deficiency.
| No. | Gender | GA(weeks) | BW(g) | Age at initial testing (days) | Initial results | Initial result of new ratios | Age at second testing (days) | Second results | Second results of new ratios | Gene (MIM number) | Mutations (type) | Genetic mode | Treatment | Clinical symptom | Follow up |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Infants with SCAD deficiency | |||||||||||||||
| 1 | Female | 38 | 3,300 | 16 | C4 = 0.89 C4/C2 = 0.18 |
C4/C5DC+C6-OH = 22.25 | 27 | C4 = 0.91 C4/C2 = 0.09 |
C4/C5DC+C6-OH = 30.33 | ACADS (606885) | c.737G > A (Hom) | AR | Low fat intake, no fasting | Normal | Routine |
| 2 | Male | 38 | 4,000 | 3 | C4 = 1.42 C4/C2 = 0.06 |
C4/C5DC+C6-OH = 11.83 | 9 | C4 = 0.8 C4/C2 = 0.1 |
C4/C5DC+C6-OH = 13.33 | ACADS (606885) | ND | – | Give up treatment | Unknown | Loss |
| 3 | Female | 39 | 3,300 | 3 | C4 = 1.47 C4/C2 = 0.09 |
C4/C5DC+C6-OH = 12.25 | 16 | C4 = 1.18 C4/C2 = 0.17 |
C4/C5DC+C6-OH = 19.67 | ACADS (606885) | c.1031A > G (Het) c.1055C > T (Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 4 | Female | 38 | 3,150 | 12 | C4 = 1.08 C4/C2 = 0.14 |
C4/C5DC+C6-OH = 27.00 | 21 | C4 = 0.98 C4/C2 = 0.12 |
C4/C5DC+C6-OH = 16.33 | ACADS (606885) | c.1031A > G (Het) c.1130C > T (Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 5 | Female | 38 | 3,050 | 3 | C4 = 2.03 C4/C2 = 0.08 |
C4/C5DC+C6-OH = 12.69 | 15 | C4 = 1.78 C4/C2 = 0.08 |
C4/C5DC+C6-OH = 25.43 | ACADS (606885) | c.1031A > G(Het) c.1054G > A(Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 6 | Female | 41 | 4,100 | 4 | C4 = 2.01 C4/C2 = 0.08 |
C4/C5DC+C6-OH = 12.56 | 13 | C4 = 1.38 C4/C2 = 0.18 |
C4/C5DC+C6-OH = 15.33 | ACADS (606885) | c.1031A > G(Het) c.322G > A(Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 7 | Male | 39 | 4,100 | 4 | C4 = 1.43 C4/C2 = 0.12 |
C4/C5DC+C6-OH = 17.88 | 12 | C4 = 1.58 C4/C2 = 0.20 |
C4/C5DC+C6-OH = 19.75 | ACADS (606885) | c.164C > T(Het) c.1031A > G(Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 8 | Male | 37 | 2,800 | 3 | C4 = 0.51 C4/C2 = 0.04 |
C4/C5DC+C6-OH = 8.50 | 10 | C4 = 0.54 C4/C2 = 0.06 |
C4/C5DC+C6-OH = 10.8 | ACADS (606885) | c.164C > T(Het) c.1130C > T(Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 9 | Female | 39 | 3,500 | 15 | C4 = 1.10 ,C4/C2 = 0.13 |
C4/C5DC+C6-OH = 22.00 | 23 | C4 = 1.30 C4/C2 = 0.17 |
C4/C5DC+C6-OH = 21.67 | ACADS (606885) | c.973C > T(Het) c.1031A > G (Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 10 | Male | 38 | 3,750 | 4 | C4 = 1.35 C4/C2 = 0.09 |
C4/C5DC+C6-OH = 12.27 | 11 | C4 = 1.07 C4/C2 = 0.17 |
C4/C5DC+C6-OH = 15.29 | ACADS (606885) | c.164C > T (Het) c.1031A > G(Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| 11 | Female | 40 | 3,650 | 4 | C4 = 0.88 C4/C2 = 0.05 |
C4/C5DC+C6-OH = 8.80 | 23 | C4 = 1.19 C4/C2 = 0.15 |
C4/C5DC+C6-OH = 13.22 | ACADS (606885) | c.1031A > G (Het) c.1130C > T (Het) |
AR | Low fat intake, no fasting | Normal | Routine |
| Infants with MCAD deficiency | |||||||||||||||
| 1 | Male | 37 | 3,250 | 3 | C6 = 0.92 C8 = 14.52 C8/C2 = 0.7 C4DC+C5-OH/C8 = 0.01 |
C8/C14:1 = 132.0 | 17 | C6 = 0.68 C8 = 3.44 C8/C2 = 0.42 C4DC+C5-OH/C8 = 0.05 |
C8/C14:1 = 114.7 | ACADM(607008) | c.790G > T (Het) | AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
| 2 | Male | 39 | 3,750 | 3 | C6 = 0.47 C8 = 1.18 C8/C2 = 0.09 C4DC+C5-OH/C8 = 0.13 |
C8/C14:1 = 29.5 | 14 | C6 = 0.52 C8 = 1.36 C8/C2 = 0.17 C4DC+C5-OH/C8 = 0.18 |
C8/C14:1 = 34.0 | ACADM(607008) | c.970G > A(Het) c.1238G > A(Het) |
AR | Give up treatment | Unknown | Loss |
| 3 | Male | 36 | 2,600 | 3 | C6 = 0.55 C8 = 1.99 C8/C2 = 0.06 C4DC+C5-OH/C8 = 0.08 |
C8/C14:1 = 15.3 | 16 | C6 = 0.27 C8 = 0.78 C8/C2 = 0.02 C4DC+C5-OH/C8 = 0.17 |
C8/C14:1 = 4.5 | ACADM(607008) | c.449_452DelCTGA(Het) c.1248T > G(Het) |
AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
| 4 | Male | 39 | 2,850 | 3 | C6 = 0.09 C8 = 0.17 C8/C2 = 0.01 C4DC+C5-OH/C8 = 1.00 |
C8/C14:1 = 3.4 | 11 | C6 = 0.13 C8 = 0.22 C8/C2 = 0.02 C4DC+C5-OH/C8 = 0.86 |
C8/C14:1 = 5.5 | ACADM(607008) | c.499_452delCTGA(Het) c.589A > G(Het) |
AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
| Infants with VLCAD deficiency | |||||||||||||||
| 1 | Female | 37 | 2,500 | 9 | C14:1 = 1.71 C14:1/C16 = 0.60 C14:1/C2 = 0.51 |
C14:1/C16-OH = 171.0 | 18 | C14:1 = 1.95 C14:1/C16 = 1.1 C14:1/C2 = 0.78 |
C14:1/C16-OH = 195.0 | ACADVL(609575) | c.1280G > A (Het) c.1345G > C (Het) |
AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
| 2 | Female | 37 | 3,500 | 15 | C14:1 = 1.51 C14:1/C16 = 0.62 C14:1/C2 = 0.55 |
C14:1/C16-OH = 151.0 | 24 | C14:1 = 1.95 C14:1/C16 = 0.71 C14:1/C2 = 0.61 |
C14:1/C16-OH = 97.5 | ACADVL(609575) | c.887_888delCT (Hom) | AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
| 3 | Female | 40 | 3,350 | 15 | C14:1 = 2.1 C14:1/C16 = 1.13 C14:1/C2 = 0.33 |
C14:1/C16-OH = 210.0 | 25 | C14:1 = 2.91 C14:1/C16 = 1.39 C14:1/C2 = 0.55 |
C14:1/C16-OH = 145.5 | ACADVL(609575) | c.642_643delCT(Het) c.1349G > A (Het) |
AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
| 4 | Female | 38 | 3,700 | 3 | C14:1 = 4.27 C14:1/C16 = 0.50 C14:1/C2 = 0.25 |
C14:1/C16-OH = 61.0 | 14 | C14:1 = 2.91 C14:1/C16 = 1.39 C14:1/C2 = 0.55 |
C14:1/C16-OH = 170.5 | ACADVL(609575) | c.1349G > A (Het) c.895C > G (Het) |
AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
| 5 | Male | 34 | 2,450 | 16 | C14:1 = 0.63 C14:1/C16 = 0.53 C14:1/C2 = 0.06 |
C14:1/C16-OH = 63.0 | 22 | C14:1 = 1.42 C14:1/C16 = 1.15 C14:1/C2 = 0.16 |
C14:1/C16-OH = 142.0 | ACADVL(609575) | c.553G > A (Het) c.848T > C(Het) |
AR | Low fat intake, no fasting, levocarnitine supplementation | Normal | Routine |
SCAD, short chain acyl-CoA hydrogenase; MCAD, medium chain acyl-CoA hydrogenase; VLCAD, very long chain acyl-CoA hydrogenase; ND, not done; AR, autosomal recessive.