<unk>  is caused by any mutation of the SUMF1 gene which renders its protein product, the formylglycine-generating enzyme (FGE), defective. These mutations result in inactive forms of FGE. This enzyme is required for posttranslational modification of a cysteine residue in the<unk>  enzyme active site into formylglycine, which is required for its proper function.
Multiple sulfatase deficiency
Beta-ketothiolase deficiency
17β-Hydroxysteroid dehydrogenase III deficiency
5α-Reductase 2 deficiency
Mevalonate kinase deficiency
Prolidase deficiency
Cortisone reductase deficiency
Pure hair-nail type ectodermal dysplasia