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peroxisome biogenesis disorder due to PEX1 defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

peroxisome biogenesis disorder due to PEX1 defect

MONDO:0100259

Also known as:PEX1 related Zellweger spectrum disorder

Overview

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.

OnsetINFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: infancy.

GeneReviews

Clinical Guidance

Zellweger spectrum disorder (ZSD) is defined by a continuum of three phenotypes described before the biochemical and molecular bases of these disorders had been fully determined: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) . The ZSD phenotypic spectrum is broad; some affected individuals have mild manifestations, mainly sensory deficits and/or mild developmental delay. Recently, individuals with normal intellect have been identified by genomic testing methods. Nonetheless, all of the peroxisome assembly disorders cause significant morbidity, frequently resulting in death in childhood.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings Zellweger spectrum disorder (ZSD) should be suspected in children with the following and findings. Clinical Findings In newborns: • Hypotonia • Poor feeding • Distinctive facies • Brain malformations • Seizures • Renal cysts • Hepatomegaly, cholestasis, and hepatic dysfunction • Bony stippling (chondrodysplasia punctata) of the patella(e) and other long bones In older infants and children: • Developmental delays with or without hypotonia (Note: Intellect can be normal.) • Failure to thrive • Hearing loss • Vision impairment • Liver dysfunction • Adrenal dysfunction • Leukodystrophy • Peripheral neuropathy and ataxia Laboratory Findings The screening assays for ZSD are summarized in . Note that because some individuals with ZSD do not have abnormalities of these screening assays in body fluids or cultured cells, molecular genetic testing is necessary to establish the diagnosis . Functional testing in fibroblasts remains an ancillary tool to confirm equivocal molecular and/or biochemical results. Table 1. Screening Assays for Zellweger Spectrum Disorder

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for peroxisome biogenesis disorder due to PEX1 defect. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

(full text) and (full text) have published management and treatment guidelines for Zellweger spectrum disorder (ZSD). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with ZSD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Zellweger Spectrum Disorder

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with Zellweger Spectrum Disorder

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for peroxisome biogenesis disorder due to PEX1 defect.

12 publications have been identified in PubMed for peroxisome biogenesis disorder due to PEX1 defect. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Diagnostic / Biomarker (17%).

Research Type	Count	% of Total
Patient case studies	4	33%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Compound	Test	Expected Findings	Limitations of Test
C26:0 LPC1	Dried blood spot concentrations	C26:0-LPC concentrations	Persons w/mild ZSD may not be detected.
VLCFA	Plasma concentration	plasma concentrations of C26:0 C26:1; ratios of C24/C22 C26/C222	Non-fasting samples, hemolyzed samples, or a person on a ketogenic diet can cause false positive results.
Phytanic acid pristanic acid3	Plasma concentration	concentrations of phytanic acid /or pristanic acid	Branched-chain fatty acid accumulation depends on dietary intake of phytanic acid, which is minimal in formula- breast-fed infants. Thus, phytanic pristanic acid levels are normal in a neonate w/ZSD.
Plasmalogens	Erythrocyte membrane concentrations	amounts of C16 C18 plasmalogens	Persons w/moderate-to-mild ZSD may have marginally-to-normal plasmalogen levels.
Pipecolic acid	Plasma/urine concentration	concentration of pipecolic acid in both plasma urine	Urinary excretion of pipecolic acid is high in neonatal period but diminishes w/age.4 Thus, urine should be tested in a neonate plasma in an older child or adult.
Bile acids	Plasma/urine concentration	concentrations of C27 bile acid intermediates THCA DHCA	In most cases plasma testing is more sensitive than urine analysis.

GeneReviews

Differential Diagnosis

The differential diagnosis of Zellweger spectrum disorder (ZSD) varies with age at presentation and most prominent feature of the presentation. ZSD in newborns is most often confused with other conditions that result in profound hypotonia including Down syndrome, other chromosome abnormalities, and the disorders summarized in . Table 3. Differential Diagnosis of ZSD in a Newborn with Profound Hypotonia

Gene(s)/ Genetic Mechanism	Disorder	MOI
DMPK	Congenital myotonic dystrophy type 1	AD MTM1
SELENON	Multiminicore disease (OMIM 255320, 602771)	AR SMN1
Differential Diagnosis of ZSD – Other Peroxisomal Disorders Gene	Disorder	MOI
ABCD1	XL adrenoleukodystrophy1	XL

Source: GeneReviews — "Zellweger Spectrum Disorder"

System/Concern	Evaluation	Comment
Feeding	Feeding nutrition assessment	To incl eval of aspiration risk nutritional status; Consider eval for gastrostomy tube placement in those w/dysphagia /or aspiration risk.
Hearing	Audiologic eval	Assess for hearing loss.
Eyes	Comprehensive ophthalmologic assessment	OCT exam in adherent patients has shown cystoid macular edema . Hepatic
Neurologic	Neurologic eval	To incl brain MRI; Consider EEG if seizures are a concern.
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Endocrine
Renal	Urine oxalate-to-creatinine ratio, serial kidney ultrasound (can be done w/liver ultrasounds)	Some affected persons develop urolithiasis nephrocalcinosis assoc w/urinary oxalate load .
Dental	Dental eval	Ameliogenesis imperfects, typically of secondary teeth, requires extensive dental interventions. Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons families re nature, MOI, implications of ZSD in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with Zellweger Spectrum Disorder Manifestation/Concern	Treatment	Considerations/Other Feeding nutrition
Hearing	Hearing aids in children found to have hearing impairment	See also Genetic Hearing Loss Overview for discussion of management issues. Vision impairment
Seizures	Standard treatment w/ASM by experienced neurologist	No type of ASM is contraindicated. Seizures may be difficult to control despite use of appropriate medication.
DD/ID	Provide early-intervention services.	Adrenal
insufficiency	Adrenal replacement therapy	Osteopenia
imperfecta	Treatment per dentist	, Renal oxalate
stones	Supportive treatment has included hydration, lithotripsy, surgical intervention.	Pyridoxine treatment did not oxalate excretion in 1 study .
Vaccination	Annual influenza respiratory syncytial virus vaccines as well as usual vaccination schedule	ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability 1.

Kisho

peroxisome biogenesis disorder due to PEX1 defect

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

peroxisome biogenesis disorder due to PEX1 defect

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications