OAFAOAAHemoglobinopathiesOther
Core panel
    Isovaleric acidemiaMedium-chain acyl-CoA dehydrogenase deficiencyPhenylketonuriaSickle cell anemia (Hb SS disease) HbCongenital hypothyroidism
    Glutaric acidemia type IVery long-chain acyl-CoA dehydrogenase deficiencyMaple syrup diseaseHb S/β-thalassemiaBiotinidase deficiency
    3-Hydroxy-3-methylglutaryl-CoA lyase deficiencyLong-chain L-3-hydroxy acyl-CoA dehydrogenase deficiencyHomocystinuria (caused by cystathionine β-synthase)Hb S/C diseaseCongenital adrenal hyperplasia (21-hydroxylase deficiency)
    Multiple carboxylase deficiencyTrifunctional protein deficiencyCitrullinemiaClassical galactosemia
    Methylmalonic acidemia (mutase deficiency)Carnitine-uptake defectArgininosuccinic acidemiaHearing loss
    3-Methylcrotonyl-CoA carboxylase deficiencyTyrosinemia type ICystic fibrosis
    Methylmalonic acidemia (Cbl A,B)
    Propionic acidemia
    β-ketothiolase deficiency
Secondary targets
    Methylmalonic acidemia (Cbl C,D)Short-chain acyl-CoA dehydrogenase deficiencyBenign hyperphenylalaninemiaVariant hemoglobinopathies (including Hb E)Galactokinase deficiency
    Malonic acidemiaGlutaric acidemia type IITyrosinemia type IIGalactose epimerase deficiency
    Isobutyryl-CoA dehydrogenase deficiencyMedium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiencyDefects of biopterin cofactor biosynthesis
    2-Methyl 3-hydroxy butyric aciduriaMedium-chain ketoacyl-CoA thiolase deficiencyArgininemia
    2-Methylbutyryl-CoA dehydrogenase deficiencyCarnitine palmitoyltransferase II deficiencyTyrosinemia type III
    3-Methylglutaconic aciduriaCarnitine: acylcarnitine translocase deficiencyDefects of biopterin cofactor regeneration
Carnitine palmitoyltransferase I deficiency (liver)Hypermethioninemia
Dienoyl-CoA reductase deficiencyCitrullinemia type II
  • OA indicates disorders of organic acid metabolism; FAO, disorders of fatty acid metabolism; AA, disorders of amino acid metabolism; CoA, coenzyme A.