If you have a question for the Zellweger Spectrum Disorder Alliance or would like to schedule a PBD-ZSD educational presentation, please fill out the fields below.
Additionally, please check out the helpful links to additional testing resources at the bottom of this page.
Helpful Articles
GeneReviews® for Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder
OMIM® entry on Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder
Treatment Guidelines in PBD/ZSD
Braverman: "Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines"
Klouwer: "Development and validation of a severity scoring system for Zellweger spectrum disorders. "
Wanders: "Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. "
Liver Function in PBD/ZSD
Berendse: "Therapy in Zellweger spectrum disorders"
Additional Online Resources
NCBI GeneReviews® on Zellweger spectrum disorder
is a resource for healthcare professionals on Zellweger spectrum disorder. Please visit the link below.
PBD-ZSD Genetic Test Program
A no-cost* genetic test for 13 genes associated with PBD-ZSD.
The test is run by Prevention Genetics.
Genes tested: PEX1, PEX2, PEX3, PEX5, PEX 6, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26.
The overall sensitivity of this sequencing panel test is predicted to be over 95% for DNA substitutions (missense, nonsense, splicing pathogenic variants), small insertions and/or deletions (frameshift and splice-site pathogenic variants), and gross deletions and duplications.
Patients must meet one of the criteria below*:
1. Diagnosed with PBD-ZSD
2. Clinical suspicion of PBD-ZSD
(eg, neurological, vision, hearing, or hepatic deterioration)
*No cost to patients for those who qualify.
Zellweger spectrum disorders Atypical Bile Acid Test
A no-cost* test to identify the presence and levels of dihydroxy- and trihydroxycholestanoic acid (DHCA/THCA), or atypical bile acids, in the blood, this test is run by Cincinnati Children’s Hospital Medical Center (CCHMC) and sponsored by Travere Therapeutics.
Patients must meet one of the criteria below*:
1. Already diagnosed with Zellweger spectrum disorder (eg, very long chain fatty acids, pathogenic homozygous genetic result on PEX gene)
- Severe form, often referred to as Zellweger syndrome (ZS)
- Moderate form, often referred to as Neonatal Adrenoleukodystrophy (NALD)
- Mild form, often referred to as Infantile Refsum Disease (IRD)
2. EGL Genetic result with pathogenic or likely pathogenic, heterozygous mutation on any PEX gene, other than the PEX7 gene
*No cost to patients for those who qualify.