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)
  41. MPS-I – Mucopolysaccharidosis Type I
  42. Pompe – Glycogen Storage Disease Type II
  43. X-ALD – X-linked Adrenoleukodystrophy
  44. SMA – Spinal Muscular Atrophy

Disorder	Frequency
Phenylketonuria (PKU)	1:15,000
Congenital Hypothyroidism (CH)	1:4,000
Galactosemia	1:45,000
Hemoglobinopathies	1:400 (African Ancestry)
Congenital Adrenal Hyperplasia (CAH)	1:12,000
Medium Chain Acyl CO-A Dehydrogenase Deficiency (MCAD)	1:15,000
Other Fatty Acid Oxidation (FAO) Disorders	1:15,000
Maple Syrup Urine Disease (MSUD)	1:40,000
Homocystinuria	1:70,000
Certain other disorders of amino acid metabolism (not including  Ornithine Transcarbamylase Deficiency (OTC) 1	1:20,000
Glutaric Aciduria 1	1:100,000 (higher in Amish)
Other Organic Acid Disorders	1:20,000
Biotinidase Deficiency	1:60,000
Severe Combined Immunodeficiency (SCID)	1:100,000
Mucopolysaccharidosis Type I (MPS-I)	1:100,000
Glycogen Storage Disease Type II (Pompe)	1:40,000
X-linked Adrenoleukodystrophy (X-ALD)	1:50,000
Spinal Muscular Atrophy (SMA)	1:10,000

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