Review Article

Metabolic Causes of Epileptic Encephalopathy

Table 12

Peroxisomal disorders.

Biogenesis disordersSingle enzyme disordersContiguous 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].