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Neonatal metabolic screening

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What is neonatal metabolic screening?

Neonatal screening aims to detect, immediately after birth, several biochemical markers, amino acids and acyl-carnitines, whose inadequate concentration could indicate certain metabolic dysfunctions, visible or not in the first months of life.


Through the Neonatal Screening, the following possible metabolic dysfunctions can be detected:

Amino acid dysfunctions:

- 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

Dysfunctions of the metabolism of other organic acids:

- 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

Dysfunctions of fatty acid metabolism:

- 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