Table 2.
Confirmed diagnoses in the China Newborn Screening Program
| Disorders | Diagnoses |
|---|---|
| Hyperphenylalaninemia | 34 |
| Maple syrup urine disease | 4 |
| Tyrosinemia | 3 |
| Homocystinuria | 3 |
| Argininemia | 2 |
| Hyperammonemia-hyperornithinemia-homocitrullinuria syndrome | 1 |
| Isovaleric acidemia | 4 |
| Glutaric acidemia type I | 2 |
| Methylmalonic aciduria | 10 |
| Propionic acidemia | 2 |
| 3-Methylcrotonyl-CoA carboxylase deficiency | 9 |
| 2-Methylbutyryl-CoA dehydrogenase deficiency | 3 |
| Medium-chain acyl-CoA dehydrogenase deficiency | 4 |
| Carnitine transporter defect | 9 |
| Trifunctional protein deficiency | 2 |
| Short-chain acyl-CoA dehydrogenase deficiency | 4 |
| Very-long-chain acyl-CoA dehydrogenase deficiency | 2 |
| Total | 98 |