CE ESTE TESTUL DE SCREENING NEONATAL METABOLIC?

Ce este screening-ul 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:

  • Argininemia
  • Argininosuccinic aciduria (ASA lyase deficiency)
  • Biopternin Regeneration Defects /Biopternin Biosynthesis Defects
  • Carbamoylphosphate synthetase deficiency
  • Citrullinemia
  • Homocystinuria
  • Hypermethioninemia
  • Hyperammonemia, hyperornithinemia,
  • Homocitrullinemia syndrome (HHH)
  • Hyperornithinemia with gyral atrophy of the choroid and retina
  • Maple syrup urine disease (MSUD)
  • Nonketotic hyperglycinemia (glycine encephalopathy)
  • Ornithine
  • Transcarbamylase deficiency
  • Phenylketonuria
  • Transient neonatal tyrosinemia
  • Tyrosinemia type I
  • Tyrosinemia type II
  • Tyrosinemia type III

Disfunctii ale metabolismului altor acizi organici:

  • Adenosylcobalamin synthesis defect
  • Isovaleric acidemia (Isovaleryl CoA dehydrogenase deficiency)
  • Isobutyryl CoA dehydrogenase deficiency
  • Glutaryl CoA dehydrogenase deficiency type I (Glutaric acidemia type I)
  • Malonyl CoA decarboxylase deficiency (malonic aciduria)
  • Methylmalonic acidemia (MMA)
  • 3-Methylcrotonyl CoA carboxylase deficiency (biotinidase deficiency)
  • Methylmalonyl CoA mutase deficiency
  • 3-Hydroxy-3-methyl glutaryl CoA liase deficiency ( HMG CoA liase deficiency )
  • 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
  • Multiple CoA carboxylase deficiency (MCD) (holocarboxylase synthetase deficiency)
  • Maternal vitamin B12 deficiency
  • Mitochondrial acetoacetyl CoA thiolase deficiency (betaketothiolase deficiency)
  • Propionyl CoA carboxylase deficiency  (propionic acidemia)
  • Ethylmalonic encephalopathy
  • Formiminoglutamic aciduria
  • 2-methylbutyryl CoA dehydrogenase deficiency
  • 3-methylglutaconyl CoA hydratase deficiency

Disfunctii ale metabolismului acizilor grasi:

  • Short chain acyl CoA dehydrogenase deficiency
  • Short chain hydroxyacyl CoA dehydrogenase deficiency
  • Medium chain acyl CoA dehydrogenase deficiency  (MCADD)
  • Long chain 3-hydroxyacyl CoA dehydrogenase deficiency ( LCHADD )
  • Very long chain acyl CoA dehydrogenase deficiency ( VLCADD )
  • Carnitine/acylcarnitine translocase deficiency
  • Carnitine uptake defect
  • Carnitine palmitoyl transferase deficiency type I
  • Carnitine palmitoyl transferase deficiency type II
  • Glutaryl CoA dehydrogenase deficiency type II (Glutaric acidemia type II)
  • Trifunctional protein deficiency
  • Medium chain 3-ketoacyl CoA thiolase deficiency