Skip to main content
. 2013 May 22;2013:124934. doi: 10.1155/2013/124934

Table 12.

Peroxisomal disorders.

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].