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- Conditions
- Overview
- 2,4 Dienoyl-CoA reductase deficiency
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxyacyl-CoA dehydrogenase deficiency
- 3-methylcrotonyl-CoA carboxylase deficiency
- 3-methylglutaconic aciduria
- Arginase deficiency
- Argininosuccinic aciduria
- Beta-ketothiolase deficiency
- Biopterin defect in cofactor biosynthesis
- Biopterin defect in cofactor regeneration
- Biotinidase deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine palmitoyltransferase II deficiency
- Carnitine-acylcarnitine translocase deficiency
- Citrullinemia, type I
- Citrullinemia, type II
- Classic galactosemia
- Classic phenylketonuria
- Congenital adrenal hyperplasia
- Congenital hypothyroidism
- Critical congenital heart disease
- Cystic fibrosis
- Deafness and Hearing Loss
- Galactoepimerase deficiency
- Galactokinase deficiency
- Glutaric acidemia type I
- Glutaric acidemia type II
- HSD10 disease
- Holocarboxylase synthetase deficiency
- Homocystinuria
- Hypermethioninemia
- Isobutyryl-CoA dehydrogenase deficiency
- Isovaleric acidemia
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Malonyl-CoA decarboxylase deficiency
- Maple syrup urine disease
- Medium-chain acyl-CoA dehydrogenase deficiency
- Medium-chain ketoacyl-CoA thiolase deficiency
- Methylmalonic acidemia (cobalamin disorders)
- Methylmalonic acidemia (methylmalonyl-CoA mutase)
- Methylmalonic acidemia with homocystinuria
- Mitochondrial trifunctional protein deficiency
- Mucopolysaccharidosis type I
- Non-PKU hyperphenylalaninemia
- Pompe disease
- Primary carnitine deficiency
- Propionic acidemia
- S, βeta-thalassemia
- S,C disease
- S,S disease (sickle cell anemia)
- Severe combined immunodeficiencies
- Short-chain acyl-CoA dehydrogenase deficiency
- Short/branched chain acyl-CoA dehydrogenase deficiency
- Spinal muscular atrophy
- T-cell related lymphocyte deficiencies
- Tyrosinemia type I
- Tyrosinemia, type II
- Tyrosinemia, type III
- Various other hemoglobinopathies
- Very long-chain acyl-CoA dehydrogenase deficiency
- X-linked adrenoleukodystrophy
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