| alpha-1 antitrypsin deficiency |
| galactosemia |
| leukodystrophies |
| Pompe disease |
| Fabry disease |
| glucose transporter type 1 (Glut1) deficiency syndrome |
| mitochondrial disorders |
| porphyrias |
| fatty oxidation disorders |
| glycoprotein storage diseases |
| mucopolysaccharidosis (MPS) (2) |
| rare diseases (answers specific to IEM were sought) |
| gaucher disease |
| inborn errors of metabolism (general) |
| phenylketonuria (PKU) (2) |
| Wilson disease |
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