Overview

Peroxisome biogenesis disorder (PBD) or Zellweger spectrum disorder (ZSD) is a genetic metabolic disorder or inborn error of metabolism. The spectrum is often broken down into three disorders:

1. Zellweger syndrome (ZSD; the most severe)

2. Neonatal leukodystrophy (NALD) 

3. Infantile refsum disease (IRD; the least severe)  

Current data estimates the occurrence of ZSD is between 1 in 25,000 and 1 in 50,000. 

Life Expectancy

Babies who are diagnosed with ZSD face a grim prognosis. It ranges from death within one year to survival into early adulthood with significant special needs. Unfortunately, it is not common for babies diagnosed with ZSD to live past the first year.

Symptoms

The main symptoms of these disorders include profound vision and hearing loss, seizures and significantly impaired cognition. Additionally, infants with the disease suffer from weak muscle tone (hypotonia), which leads to trouble moving, and they may not be able to suck or swallow. Jaundice and gastrointestinal bleeding may also occur.

Treatment

There is currently no cure for the disease and no standard treatment. Treatments that are available can only help with the symptoms—they are not able to strike at the cause. 

Learn More About PBD-­ZSD

● The National Library of Medicine’s overview of Zellweger spectrum disorder.

● The Global Foundation for Peroxisomal Disorders: A public charity committed to funding research to develop a greater understanding of Peroxisomal Biogenesis Disorders. It also assists families afflicted with the disease through support services and educational programs. 

Doctors and Researchers working on PBD-ZSD

● Dr. Nancy Braverman—McGill University

● Dr. Gerald Raymond—The University of Minnesota

● Dr. William Rizzo ­- The University of Nebraska Medical Center

● Dr. Joe Hacia ­—University of Southern California

● Anne B. Moser - The Kennedy Krieger Institute