| Galactosemia |
| Mucolipidosis tipe I |
| Mucolipidosis tipe II |
| Fabry disease |
| Galactokinase deficiency |
| Glucose-6-phosphate dehydrogenase deficiency |
| Mannosidosis |
| Refsum disease |
| Lowe syndrome |
| Alport syndrome |
| Familiar hypoparatyroidism |
| Cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome, lathosterolosis…) |
| Metabolic syndrome |
| Diabete |
|
