Newborn Screening - List of Disorders

1. Argininemia (ARG)*
2. Argininosuccinic acidemia (ASA)
3. Citrullinemia Type I (CIT-I)
4. Citrullinemia Type II (CIT-II)
5. Homocystinuria (HCY)
6. Hypermethioninemia (MET)*
7. Maple syrup urine disease (MSUD)

8. Phenylketonuria (PKU)
9. Benign hyperphenylalaninemia defect (H-PHE)
10. Biopterin cofactor biosynthesis defect (BIOPT-BS)
11. Biopterin cofactor regeneration defect (BIOPT-REG)
12. Tyrosinemia (TYR-I)*
13. Tyrosinemia Type II(TYR-II)*
14. Tyrosinemia Type III(TYR-III)*

Fatty Acid Oxidation Disorders:
15. Carnitine acylcarnitine translocase deficiency (CACT)*
16. Carnitine palmitoyltransferase I deficiency (CPT-IA)*
17. Carnitine palmitoyltransferase II deficiency (CPT-II)*
18. Carnitine uptake deficiency (CUD)*
19. Dienoyl-CoA reductase deficiency (DERED)*
20. Glutaric acidemia type II (GA-2)*
21. Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (LCHAD)*
22. Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)*
23. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
24. Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)*
25. Trifunctional protein deficiency (TFP)*
26. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)*

Organic Acid Disorders:
27. 2-Methyl-3-hydroxy butyric aciduria (2M3HBA)*
28. 2-Methylbutyryrl-CoA dehydrogenase deficiency (2MBG)*
29. 3-hydroxy 3-methylglutaric aciduria (HMG)*
30. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)*
31. 3-Methylglutaconic aciduria (3MGA)*
32. Beta-ketothiolase deficiency (BKT)*
33. Glutaric acidemia type I (GA1)*
34. Isovaleric acidemia (IVA)*
35. Malonic acidemia (MAL)
36. Methylmalonic acidemia cobalamin disorders (Cbl A,B)*
37. Methylmalonic aciduria with homocystinuria (Cbl C,D)*
38. Methylmalonic acidemia methylmalonyl-CoA mutase (MUT)*
39. Multiple carboxylase deficiency (MCD)*
40. Propionic acidemia (PROP)*

Hemoglobinopathies:
Interpretation of Newborn Hemoglobin Screening results
41. S/Beta thalassemia
42. S/C disease
43. Sickle cell anemia
44. Variant hemoglobinopathies
45. Hemoglobin H disease

Endocrine Disorders:
46. Congenital adrenal hyperplasia (CAH)
47. Congenital hypothyroidism (CH)

Lysosomal Storage Disorders:
48. Glycogen Storage Disease Type II (Pompe)
49. Mucopolysaccharidosis Type I (MPS I)

Other Disorders:
50. Biotinidase deficiency (BIOT)
51. Galactosemia (GALT)
52. Cystic Fibrosis (CF)**
53. Severe combined immunodeficiency (SCID)
54. T-cell related lymphocyte deficiencies
55. X-linked Adrenoleukodystrophy (X-ALD)
56. Spinal muscular atrophy (SMA)

57. Guanidinoacetate methyltransferase (GAMT) deficiency

58. Early Hearing Detection and Intervention (EHDI) Program

59. Critical Congenital Heart Disease (CCHD)