Healthcare Professional Resources

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

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NCBI GeneReviews® on Zellweger spectrum disorder

is a resource for healthcare professionals on Zellweger spectrum disorder. Please visit the link below.

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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.

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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.