Table 2 Relationship between biochemical indicators for neonatal inherited metabolic diseases and gene variants
From: Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
Case of carriers | Related disease | Main abnormal biochemical indicators | above or below (a) median of the normal newborns | |
|---|---|---|---|---|
Endocrine diseases | 73 | Congenital hypothyroidism | TSH | 41(56%) |
Organic acid metabolic disease | 58 | Methylmalonic acidemia, Propionicacidemia | C3;C3/C2 | 48;46 |
5 | Glutaric acidemia I | C5DC + C6OH | 3 | |
26 | Holocarboxylase synthetase deficiency, Biotinidase deficiency, 3-Hydroxy-3-methylglutaryl-CoA synthase-2 deficiency, 3-Methylcrotonyl-CoA carboxylase deficiency | C4DC + C5OH | 15 | |
1 | MalonyI-CoA decarboxylase deficiency | C3DC + C4OH | 0 | |
13 | Isovaleric academia, 2-Methylbutyryl-CoA dehydrogenase deficiency, Isobutyryl-CoA dehydrogenase deficiency | C5 | 7 | |
Total | 103 | 73(71%) | ||
Amino acid metabolic disease | 3 | Maple syrup urine disease | Leu + Ile + Pro-OH | 1 |
2 | Tyrosinemia | Tyr | 2 | |
31 | Hyperphenylalaninemia | Phe | 24 | |
10 | Homocystinuria, Hypermethioninemia | Met | 6 | |
3 | Nonketotic hyperglycinemia | Gly | 1 | |
19 | Argininosuccinic aciduria, Citrullinemia Type I, Citrin deficiency | Cit | 13 | |
2 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | Orn | 1 | |
2 | Carbamoyl phosphate syntetase I deficiency | Cit | 2a | |
Total | 72 | 50(69%) | ||
Fatty acid β oxidation disorder | 8 | Very long-chain acyl-CoA dehydrogenase deficiency | C14:1 | 8 |
3 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency | C16OH | 3 | |
5 | Medium chain acyl-CoA dehydrogenase deficiency | C8 | 4 | |
16 | Short-chain acyl-CoA dehydrogenase deficiency | C4 | 14 | |
9 | Glutaric acidemia II | C5, C4 | 5;7 | |
2 | β-ketothiolase deficiency | C5:1;C4DC + C5OH | 0;2 | |
7 | Carnitine palmitoy ltransferase II deficiency, Carnitine-acylcarnitine translocase deficiency | C16;C18 | 4;4 | |
34 | Primary carnitine deficiency | C0 | 29a | |
Total | 84 | 71(85%) |