Peroxisomal disorders

Last updated: Saturday, 07, August, 2010
Key InformationAppropriate Tests

A group of disorders due to genetic defects of peroxisomal structure or enzymes.

Consult pathologist.

Enzyme defects

  • Refsum disease 

Plasma phytanate.

  • Adrenoleucodystrophy 

Very long chain fatty acids (plasma).

Structural defects

  • Zellweger syndrome 

Very long chain fatty acids (plasma); electron microscopy of appropriate tissue.