Cytogenomic

Lista boli 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

Disfunctii endocrinologice:

48. Congenital Hypothiroidism

49. Congenital Adrenal Hyperplasia (CAH)

50. Galactosemia

51. Cystic Fibrosis

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