CE ESTE TESTUL DE SCREENING NEONATAL METABOLIC?

Screeningul Neonatal urmareste detectarea, imediat dupa nastere, a mai multor markeri biochimici, aminoacizi si acil-carnitine, a caror concentratie necorespunzatoare ar putea indica anumite disfunctii metabolice, vizibile sau nu in primele luni de viata.

Prin Screeningul Neonatal pot fi detectate urmatoarele posibile disfunctii metabolice:

 

Disfunctii ale aminoacizilor:

1. Argininemia
2. Argininosuccinic aciduria (ASA lyase deficiency)
3. Biopternin Regeneration Defects /Biopternin Biosynthesis Defects
4. Carbamoylphosphate synthetase deficiency
5. Citrullinemia
6. Homocystinuria
7. Hypermethioninemia
8. Hyperammonemia, hyperornithinemia, Homocitrullinemia syndrome (HHH)
9. Hyperornithinemia with gyral atrophy of the choroid and retina
10. Maple syrup urine disease (MSUD)
11. Nonketotic hyperglycinemia (glycine encephalopathy)
12. Ornithine Transcarbamylase deficiency
13. Phenylketonuria
14. Transient neonatal tyrosinemia
15. Tyrosinemia type I
16. Tyrosinemia type II
17. Tyrosinemia type III

 

Disfunctii ale metabolismului acizilor grasi:

18. Short chain acyl CoA dehydrogenase deficiency
19. Short chain hydroxyacyl CoA dehydrogenase deficiency
20. Medium chain acyl CoA dehydrogenase deficiency  (MCADD)
21. Long chain 3-hydroxyacyl CoA dehydrogenase deficiency ( LCHADD )
22. Very long chain acyl CoA dehydrogenase deficiency ( VLCADD )
23. Carnitine/acylcarnitine translocase deficiency
24. Carnitine uptake defect
25. Carnitine palmitoyl transferase deficiency type I
26. Carnitine palmitoyl transferase deficiency type II
27. Glutaryl CoA dehydrogenase deficiency type II (Glutaric acidemia type II)
28. Trifunctional protein deficiency
29. Medium chain 3-ketoacyl CoA thiolase deficiency

 

Disfunctii ale metabolismului altor acizi organici:

30. Adenosylcobalamin synthesis defect
31. Isovaleric acidemia (Isovaleryl CoA dehydrogenase deficiency)
32. Isobutyryl CoA dehydrogenase deficiency
33. Glutaryl CoA dehydrogenase deficiency type I (Glutaric acidemia type I)
34. Malonyl CoA decarboxylase deficiency (malonic aciduria)
35. Methylmalonic acidemia (MMA)
36. 3-Methylcrotonyl CoA carboxylase deficiency (biotinidase deficiency)
37. Methylmalonyl CoA mutase deficiency
38. 3-Hydroxy-3-methyl glutaryl CoA liase deficiency ( HMG CoA liase deficiency )
39. 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
40. Multiple CoA carboxylase deficiency (MCD) (holocarboxylase synthetase deficiency)
41. Maternal vitamin B12 deficiency
42. Mitochondrial acetoacetyl CoA thiolase deficiency (betaketothiolase deficiency)
43. Propionyl CoA carboxylase deficiency  (propionic acidemia)
44. Ethylmalonic encephalopathy
45. Formiminoglutamic aciduria
46. 2-methylbutyryl CoA dehydrogenase deficiency
47. 3-methylglutaconyl CoA hydratase deficiency