Table 1 Positive patients with IMDs detected by MS/MS newborn screening.
Disorders | Number of patients | Incidence of a disease |
|---|---|---|
Amino acid disorders | 87 | 1:1770 |
 1. Classic phenylketonuria (cPKU) | 26 | 1:5921 |
 2. Mild phenylketonuria (mPKU) | 17 | 1:9056 |
 3. Mild hyperphenylalaninemia (MHP) | 40 | 1:3849 |
 4. Tetrahydrobiopterin deficiency (BH4D) | 4 | 1:38489 |
Fatty acid oxidation disorders | 18 | 1:8553 |
 5. Primary carnitine deficiency (PCD) | 5 | 1:30791 |
 6. Short-chain acyl-CoA dehydrogenase deficiency (SCADD) | 7 | 1:21994 |
 7. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) | 4 | 1:38489 |
 8. Carnitine palmitoyltransferase deficiency I (CPT1) | 1 | 1:153956 |
 9. Multiple acyl-CoA dehydrogenase deficiency (MADD) | 1 | 1:153956 |
Organic acidemias | 23 | 1:6694 |
 10. Methylmalonic aciduria cblC type (MMA cblC) | 7 | 1:21994 |
 11. Methylmalonic aciduria mut(0) type (MMA MUT) | 3 | 1:51319 |
 12. Methylmalonic aciduria cblF type (MMA cblF) | 1 | 1:153956 |
 13. Isobutyryl-CoA dehydrogenase deficiency (IBDD) | 4 | 1:38489 |
 14. Isovaleric acidemia (IVA) | 3 | 1:51319 |
 15. Propionic acidemia (PA) | 2 | 1:76978 |
 16. 3-methylcrotonyl CoA carboxylase dedicency (3MCCD) | 2 | 1:76978 |
 17. Ethylmalonic encephalopathy (EE) | 1 | 1:153956 |
Urea cycle disorders | 1 | 1:153956 |
 18. Citrullinemia type I (CTLN1) | 1 | 1:153956 |
Total numbers | 129 | 1:1193 |
