Table 12.
Biogenesis disorders | Single enzyme disorders | Contiguous gene syndrome |
---|---|---|
Zellweger spectrum disorders (ZSD) (i) Zellweger syndrome (ZS) (ii) Neonatal adrenoleukodystrophy (NALD) (iii) Infantile refsum disease (IRD) Rhizomelic chondrodysplasia punctata (RCDP) |
X-linked adrenoleukodystrophy (X-ALD) Acyl-coA oxidase deficiency Bifunctional protein deficiency (D-BP) Alkyl-DHAP synthase deficiency DHAP-alkyl transferase deficiency Adult Refsum disease (classic) Glutaric aciduria type III Acatalasemia Hyperoxaluria type I |
Contiguous ABCD1 DXS1357E deletion syndrome (CADDS) |
Adapted from Pearl [2].