The list of metabolic diseases included in the Expanded Newborn Screening (ENS) Programme

  • 3-hydroxy 3-methyl glutaric acidemia
  • Glutaric acidemia type 1 and type 2
  • Isovaleric acidemia
  • Methylmalonic acidemia CblA, CblB and MUT
  • Methylmalonic acidemia with homocystinuria (CblD) and (CblC)
  • Propionic acidemia
  • Argininosuccinate acidemia (argininosuccinate lyase deficiency)
  • Malonic aciduria
  • 3-methylglutaconic aciduria
  • Argininemia (arginase deficiency)
  • Citrullinemia type 1 (argininsuccinate synthetase deficiency) and type 2 (citrin deficiency)
  • Carnitine-acylcarnitine translocase deficiency
  • Carnitine transporter deficiency
  • Mitochondrial trifunctional protein deficiency
  • 2-methyl 3-hydroxybutyryl-CoA dehydrogenase deficiency
  • 2-methyl butyryl-CoA dehydrogenase deficiency
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • Medium/short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • 3-methylcrotonyl-CoA carboxylase deficiency
  • Medium-chain acyl-CoA dehydrogenase deficiency
  • Very long-chain acyl-CoA dehydrogenase deficiency
  • Short-chain acyl-CoA dehydrogenase deficiency
  • Beta-ketothiolase deficiency
  • Carnitine palmitoyltransferase deficiency type 1 and type 2
  • Glycine N-methyltransferase deficiency
  • Isobutyryl-CoA dehydrogenase deficiency
  • Methionine adenosyltransferase deficiency
  • S-adenosylhomocysteine hydrolase deficiency
  • Multiple carboxylase deficiency
  • Biopterin defect in cofactor regeneration
  • Biopterin defect in cofactor biosynthesis
  • Biotinidase deficiency
  • Phenylketonuria
  • Galactosemia
  • Benign hyperphenylalaninemia
  • Maple syrup urine disease (MSUD)
  • Homocystinuria (CBS deficiency and severe MTHFR deficiency)
  • Tyrosinemia type 1, 2 and 3

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