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Supplemental Screening of the Newborn

I recommend this screening which is cheap and easy to do.   These are quite rare and are not required.
The presence of all these disorders are evaluated by Tandem Mass Spectrometry.

  1. Argininemia
  2. Argininosuccinate Iyase deficiency ( ASA )
  3. Carnitine palmitoyltransferase 11 deficiency ( CPT 11)
  4. Carnitine/acylcarnitine translocase deficiency ( translocase)
  5. Citrullinemia Glutaric aciduria Type I ( GA I )
  6. Homocystinuria: cystathionine synthase deficiency
  7. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency ( HMG )
  8. Hyperammonemia, hyperornithinemia, homocitrullinuria ( HHH)
  9. Hypermethioninemia
  10. lsobutyryl-CoA dehydrogenase deficiency
  11. Isovaleric acidemia ( IVA )
  12. Long-chain hydroxyacyl-CoA dehydrogenase deficiency ( LCHAD)
  13. Malonic aciduria
  14. Maple syrup urine disease ( MSUD
  15. Medium-chain acyl-CoA dehydrogenase deficiency ( MCAD )
  16. 2-M ethyl butyryl-CoA dehydrogenase deficiency
  17. 3-Methylcrotonyl-CoA carboxylase deficiency ( MCC DEF )
  18. Methylmalonic acidemia ( MMA)
  19. Mitochondrial acetoacetyl-CoA thiolase deficiency( THIOLASE )
  20. Multiple acyl-CoA dehydrogenase deficiency ( MADD, GA 11 )
  21. Nonketotic hyperglycinemia ( NKH )
  22. 5-Oxoprolinuria
  23. Phenylketonuria ( PKU )
  24. Propionic acidernia ( PPA )
  25. Short-chain acyl-CoA dehydrogenase deficiency (SCAD)
  26. Trifunctional protein deficiency
  27. Tyrosinemia Type I (TYR I)
  28. Tyrosinemia Type II (TYRII)
  29. Very long-chain acyl-CoA dehydrogenase ( VLCAD )