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.