Table 3 Differences in biochemical indicators between the carriers, non-carriers, and the normal population
From: Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
Related disease | Case of carriers | Main abnormal biochemical index | Carrier group | Non-carrier group | the ratio of carriers to the normal newborns | the ratio of non-carriers to the normal newborns | P | |
|---|---|---|---|---|---|---|---|---|
Endocrine disease | Congenital hypothyroidism | 73 | TSH | 2.43(1.37,3.47) | 2.21(1.30,3.46) | 1.19 ± 0.79 | 1.09 ± 0.69 | 0.290 |
Organic acid metabolic disease | Methylmalonic academia, Propionicacidemia | 58 | C3 | 4.12(1.82,4.86) | 1.66(1.20,2.20) | 2.29 ± 1.05 | 1.17 ± 0.64 | < 0.001 |
C3/C2 | 0.15(0.09,0.21) | 0.09(0.07,0.12) | 1.68 ± 0.75 | 1.12 ± 0.41 | < 0.001 | |||
Holocarboxylase synthetase deficiency, Biotinidase deficiency, 3-Hydroxy-3-methylglutaryl-CoA synthase-2 deficiency, 3-Methylcrotonyl-CoA carboxylase deficiency | 26 | C4DC + C5OH | 0.22(0.18,0.29) | 0.19(0.15,0.24) | 1.47 ± 0.92 | 1.06 ± 0.34 | 0.032 | |
Isovaleric academia, 2-Methylbutyryl-CoA dehydrogenase deficiency, Isobutyryl-CoA dehydrogenase deficiency | 13 | C5 | 0.11(0.08,0.14) | 0.10(0.08,0.13) | 1.35 ± 0.88 | 1.21 ± 0.92 | 0.603 | |
Amino acid metabolic disease | Hyperphenylalaninemia | 31 | Phe | 68.00(52.88,83.51) | 52.05(46.34,59.08) | 1.44 ± 0.59 | 1.05 ± 0.26 | 0.001 |
Homocystinuria, Hypermethioninemia | 10 | Met | 26.34(18.64,46.73) | 21.21(17.15,25.98) | 1.45 ± 0.70 | 1.04 ± 0.34 | 0.097 | |
Argininosuccinic aciduria, Citrullinemia Type I, Citrin deficiency | 19 | Cit | 15.05(11.71,25.14) | 12.51(10.32,15.56) | 1.77 ± 1.55 | 1.10 ± 0.57 | 0.077 | |
Fatty acid β oxidation disorder | Short-chain acyl-CoA dehydrogenase deficiency | 16 | C4 | 0.31(0.25,0.45) | 0.21(0.18,0.25) | 1.8 ± 0.98 | 1.05 ± 0.32 | 0.008 |
Primary carnitine deficiency | 34 | C0 | 14.65(8.64,18.99) | 21.87(16.65,26.28) | 0.69 ± 0.31 | 1.07 ± 0.42 | < 0.001 |