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 Mirum Pharmaceuticals.
Patients must meet one of the criteria below*:
1. Already diagnosed with peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD) (eg, very long chain fatty acids, pathogenic homozygous genetic result on PEX gene)
- Severe form, formerly referred to as Zellweger syndrome (ZS)
- Moderate form, formerly referred to as Neonatal Adrenoleukodystrophy (NALD)
- Mild form, formerly referred to as Infantile Refsum Disease (IRD)
2. Emory Genetics Laboratory 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.