Newborn Screening: Disorders Detected, October 2007

I. Endocrine Disorders

    1. Congenital Adrenal Hyperplasia (CAH)
    2. Hypothyroidism

II. Hemoglobinopathies

    3. Sickle Cell Anemia (SCA); Beta-thalassemia

III. Other

    4. Biotinidase Deficiency (BD)
    5. Cystic Fibrosis
    6. Galactosemia (GAL), Classic or GG; Galactosemia D/G Variant; Galactosemia, Other variants

IV. Amino Acidopathies (AA/Urea Cycle)

    7. Arginase Deficiency
    8. Argininosuccinic aciduria
    9. Biopterin Cofactor Defects
    10. Citrin Deficiency
    11. Citrullinemia
    12. Homocystinuria (HCY)
    13. Hypermethioninenemia
    14. Hyperphenylalaninemia
    15. Maple Syrup Urine Disease (MSUD)
    16. Phenylketonuria (PKU)
    17. Tyrosinemia Type I
    18. Tyrosinemia Type II
    19. Tyrosinemia Type III

V. Fatty Acid Oxidation Defects (FOD)

    20. 2,3-Dienoyl-CoA reductase deficiency
    21. Carnitine-acylcarnitine transferase deficiency (CAT)
    22. Carnitine palmitoyltransferase deficiency I (CPT Type I)
    23. Carnitine palmitoyltransferase deficiency II (CPT Type II)
    24. Electron transfer flavoprotein (ETF) deficiency (Multiple acyl-CoA dehydrogenase deficiency)( Electron transfer flavoprotein:QO deficiency)(GAII)
    25. Long chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD)
    26. Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
    27. Primary carnitine deficiency (Carnitine uptake defect)(CUD)
    28. Short chain acyl-CoA dehydrogenase deficiency (SCAD)
    29. Short chain hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
    30. Trifunctional enzyme deficiency
    31. Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)

VI. Organic Acidemias (OA)

    32. 2-Methyl butyryl-CoA dehydrogenase deficiency
    33. 3-Hydroxy-3-methyl glutaryl-CoA lyase deficiency
    34. 3-Ketothiolase deficiency (BKT)
    35. 3-Methylcrotonyl-CoA carboxylase deficiency
    36. 3-Methylglutaconic acidemia, Type I. (MGA-I)
    37. Glutaric Acidemia, Type 1
    38. Isobutryl-CoA dehydrogenase deficiency
    39. Isovaleric academia
    40. Malonic Aciduria
    41. Methylmalonic acidemia, mutase deficiency
    42. Methylmalonic acidemia, vitamin B12 activation defects (CblA, CblB) Responsive
    43. Methylmalonic academia, vitamin B12 release defect (CblC, D)
    44. Multiple-CoA carboxylase deficiency
    45. Propionic acidemia