Peroxisome Biogenesis Disorder or Zellweger Spectrum Disorder (PBD - ZSD) is a genetic metabolic disorder or inborn error of metabolism.  The spectrum is often broken down into three disorders.  They are Zellweger syndrome (most severe), neonatal leukodystrophy (NALD) and Infant Refsum Disease (IRD) (least severe).  The prognosis ranges from death within a year to survival into early adulthood with significant special needs.  

 

A collection of PBD-ZSD resources

The Global Foundation for Peroxisomal Disorders - an excellent organization for research and support based in Nebraska, USA

 

Medical

Treatment guidelines assembled by the Global Foundation for Peroxisomal Disorders

Physicians and Researchers with an interest in PBDs

  • Dr. Nancy Braverman - McGill University
  • Dr. Gerald Raymond - The University of Minnesota
  • Dr. Richard Kelley - Boston Children's
  • Dr. Joseph Rizzo -
  • Joe Hacia - Researcher - University of Southern California

Genetics Home Reference - Zellweger's Spectrum Disorder

A review of therapeutic treatments - Joyce Wulf blog

Support