Peroxisomal disorders

Key Information

Appropriate Tests


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

Consult pathologist.

Enzyme defects


  • Refsum disease

Phytanate (plasma).

  • Adrenoleucodystrophy

Very long chain fatty acids (plasma).

Structural defects


  • Zellweger syndrome

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

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