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- Angelman Syndrome
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- Intellectual Disability (Mental Retardation)
- LCHADD/TFP Deficiency
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- Mucopolysaccharidosis Type I
- Myotonic muscular dystrophy type 1
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- Osteogenesis Imperfecta
- Phenylketonuria (PKU) and Pterin defects
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- 2M3HBA deficiency
- 3MCC deficiency
- Argininemia
- Argininosuccinic aciduria
- Beta-Ketothiolase deficiency
- Biotinidase deficiency
- CACT deficiency
- CPT1 deficiency
- Carnitine uptake deficiency
- Citrullinemia
- Congenital adrenal hyperplasia
- Congenital hypothyroidism
- Cystic fibrosis
- Galactosemia
- Glutaric acidemia type 1
- Glutaric acidemia type 2
- HMG-CoA lyase deficiency
- Hearing impairment
- Holocarboxylase/multiple carboxylase deficiency
- Homocystinuria
- Isobutyryl Co-A dehydrogenase deficiency
- Isovaleric acidemia
- LCHADD/TFP deficiency
- MCADD
- Malonic aciduria
- Maple syrup urine disease
- Methylmalonic acidemias
- PKU
- Propionic acidemia
- Short-chain acyl-CoA deficiency (SCADD)
- Short/branched chain acyl-CoA dehydrogenase deficiency
- Sickle cell disease
- Tyrosinemia type 1
- VLCADD
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