Metabolic Disorders

• TRADITIONAL DISORDERS
  1. CH - Congenital Hypothyroidism
  2. CAH - Congenital Adrenal Hyperplasia
  3. GAL - Galactosemia
  4. HGB - Hemoglobinopathies - SS Disease, SC Disease, Variant Hgb
  5. BIOT - Biotinidase Deficiency
  6. CF - Cystic Fibrosis
• AMINO ACID/UREA CYCLE DISORDERS (MS/MS)
  7. PKU - Phenylketonuria
  8. HPHE - Hyperphenylalanemia
  9. MSUD - Maple Syrup Urine Disease
  10. HCYS - Homocystinuria
  11. HMET - Hypermethioninemia
  12. TYR - Tyrosinemia, Type I
  13. TYR - Tyrosinemia, Type II
  14. TYR - Tyrosinemia, Type III
  15. ARG - Argininemia
  16. ASL - Argininosuccinate Lyase Deficiency
  17. CIT - Argininosuccinate Synthetase Deficiency (Citrullinemia)
• ORGANIC ACID DISORDERS (MS/MS)
  18. GA-1 - Glutaric Acidemia, Type I
  19. PA - Proprionic Acidemia
  20. MMA - Methylmalonic Acidemia
  21. MCD - Multiple Carboxylase Deficiency
  22. IVA - Isovaleric Acidemia
  23. 2-MBCD - 2-Methylbutyryl-CoA Dehydrogenase Deficiency
  24. 3-MCC - 3-Methylcrotonyl-CoA Carboxylase Deficiency
  25. HMG - 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
  26. BKT - Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
  27. IBCD - Isobutyryl-CoA Dehydrogenase Deficiency
• FATTY ACID OXIDATION DISORDERS (MS/MS)
  28. MCAD - Medium Chain Acyl-CoA Dehydrogenase Deficiency
  29. CPT II - Carnitine Palmitoyltransferase II Deficiency
  30. CAT - Carnitine/Acylcarnitine Translocase Deficiency
  31. GA II - Glutaric Acidemia, Type II
  32. MADD - Multiple Acyl-CoA Dehydrogenase Deficiency
  33. SCAD - Short-Chain Acyl-CoA Dehydrogenase Deficiency
  34. LCHAD - Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency
  35. TFP - Trifunctional Protein Deficiency
  36. VLCAD - Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
  37. CUD - Carnitine Uptake Deficiency
• OTHER
  38. NH - Newborn Hearing Screening
  39. SCID - Severe Combined Immunodeficiency
  40. CCHD - Critical Congenital Heart Disease (January 2013)

Abnormal Results Cut-Off Values

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