So far this list contains single enzyme deficiencies like Refsum disease (PHYH deficiency), racemase, MFP2 and SCPx deficiency, as well as biogenesis disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease and rhizomelic chondrodysplasia punctata. Here, HSD17B4 is linked to Zellweger syndrome.