Newborn Screening (Metabolic Disorder Screening) Disorder Method Frequency

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Newborn Screening (Metabolic Disorder Screening) Disorder Method Frequency

Endocrine Disorders

  • Hypothyreoidism (TSH) Photometry 1: 4000
  • Adrenogenital Syndrome (17-OH Progesterone) Photometry 1: 11000

Hemoglobinopathies

  • HbS, beta-Thal, HbH etc.

Others

  • CA Depending on the country up
  • to >1:10
  • G6PDH Deficiency
  • Galactosemia
  • Photometry
  • Photometry
  • Depending on the country:
  • > 1:10
  • 1: 60000
  • Biotinidase Deficiency Photometry 1: 75000
  • Cystic Fibrosis (Immuno Reactive Trypsin) Photometry 1: 4000

IIIa) Disorders of Amino Acid Metabolism

  • PKU (Phenylketonuria)
  • Hyperphenylalaninemia
  • MS/MS 1:5.500
  • Disorders of biopterin cofactors biosynthesis
  • (Hyperphenylalaninemia)
  • MS/MS 1: 500000
    1. Disorders of biopterin cofactors regeneration
  • (Hyperphenylalaninemia)
  • MS/MS 1:250000
    1. PBGS Deficiency (Porphobilinogen Synthase);
  • (Tyrosinemia Type 1)
  • Photometry < 1: 100000
    1. Tyrosinemia
  • Type 2
  • MS/MS Tyrosine levels may not be
  • sufficiently elevated for
  • detection!

Disorder Method Frequency

  • Tyrosinemia Type 3 MS/MS Tyrosine levels may not be sufficiently elevated for detection!
  • Maple Sirup Disease (MSUD) MS/MS 1:150000
  • Hypermethioninemia/ Homocystinuria MS/MS <1:100000
  • Arginase Deficiency Ms/MS n.a
  • Argininosuccinate Synthase Deficiency MS/MS n.a.
  • Argininosuccinate Lyase Deficiency MS/MS n.a.

IIIb) Urea Cycle Disorders

  • Ornithine Aminotransferase Deficiency MS/MS The diagnosis in the neonatal presentation of OAT deficiency is difficult as hyperornithinaemia is absent
  • Citrullinemia Type I MS/MS 1<100000
  • Citrullinemia Type II (ASA) 1:150000
  • Argininemia MS/MS 1:250000

IIIc) Fatty Acid Oxidation Disorders

  • Carnitine uptake defect MS/MS 1:50000
  • Long Chain 3-OH acyl CoA dehydrogenase deficiency (LCHAD) MS/MS 1:50000 (see Trifunctional Protein deficiency!)
  • Medium Chain 3-OH acyl CoA dehydrogenase deficiency (MCAD) MS/MS 1:11000
  • Trifunctional Protein Deficiency MS/MS See LCHAD!
  • Very long chain acyl CoA dehydrogenase deficiency MS/MS 1:75000
  • Dienoyl reductase deficiency MS/MS 1: 2000000
  • Carnitine Palmitoyl Transferase I deficiency MS/MS 1:300000 May not be realiably detected in the first few days of life
  • Carnitine Palmitoyl Transferase Type II deficiency MS/MS 1:250000 (detection as neonatal form is extremely rare)
  • Glutaric academia type II MS/MS 1:250000
  • Medium/short chain 3-OH acyl CoA dehydrogenase deficiency MS/MS 1:2000000
  • Medium chain ketoacyl CoA dehydrogenase deficiency MS/MS 1:2000000
  • Short chain acyl-CoA dehydrogenase deficiency MS/MS 1:30000
  • Carnitine/acylcarnitine translocase deficiency MS/MS 1:300000

IIId) Organic Acid Disorders

  • Glutaric Aciduria Type I MS/MS 1:100000
  • Methylmalonic acidemia (A,B) MS/MS 1:100000
  • Methylmalonic academia (Mut) MS/MS 1:40000 (combined with A,B)
  • 3-Methyl Crotonyl CoA carboxylase deficiency MS/MS 1:50000
  • 3-Hydroxy 3-Methylglutaric aciduria MS/MS 1:250000
  • Beta-Ketothiolase deficiency MS/MS 1:300000
  • Multiple carboxylase deficiency MS/MS 1:250000
  • Propionic acidemia MS/MS 1:150000
  • 2-Methyl- 3- hydroxybutyric aciduria MS/MS 1:1000000
  • 2-Methylbutyryl CoA dehydrogenase deficiency MS/MS <1:100000
  • 3-Methylglucaconic aciduria MS/MS 1:100000
  • Isobutyryl CoA dehydrogenase deficieny MS/MS 1:100000
  • Malonic aciduria MS/MS 1:300000
  • Methylmalonic acidemia (Cbl, C,B) MS/MS 1:100000

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