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