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# Zellweger syndrome (Zellweger spectrum)

A genetic disorder in which cells cannot build working peroxisomes; it affects brain, liver, eyes and bones from birth.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Liver](https://durgical.com/en/anatomy/liver/)
- [White matter](https://durgical.com/en/anatomy/white-matter-of-telencephalon/)
- [Kidneys](https://durgical.com/en/anatomy/kidney/)
- [Retina](https://durgical.com/en/anatomy/retina/)
- [Frontal bone](https://durgical.com/en/anatomy/frontal-bone/)
- [Left adrenal gland](https://durgical.com/en/anatomy/suprarenal-gland/)
- [Right adrenal gland](https://durgical.com/en/anatomy/suprarenal-gland-abdomen/)

## In biochemistry

- [Classic bile acid synthesis pathway: Step 5 · Sterol 27-hydroxylase (CYP27A1) and peroxisomal side-chain shortening](https://durgical.com/en/biochemistry/pathways/classic-bile-acid-synthesis-pathway/#paso-5)
- [Cell organelles and their metabolism](https://durgical.com/en/biochemistry/topics/cell-organelles-and-their-metabolism/)
- [Peroxisomal oxidation (β- and α-oxidation)](https://durgical.com/en/biochemistry/topics/peroxisomal-oxidation/)
- [Protein targeting and signal sequences](https://durgical.com/en/biochemistry/topics/protein-targeting-and-signal-sequences/)

## In histology

- [Organelles: nucleus, ER, Golgi, mitochondria, lysosomes, peroxisomes](https://durgical.com/en/histology/organelles-nucleus-er-golgi-mitochondria-lysosomes-peroxisomes/)

## What it is

A group of peroxisome biogenesis disorders caused by variants in PEX (peroxin) genes. Zellweger syndrome is the severe end; neonatal adrenoleukodystrophy and infantile Refsum disease are milder forms of the same spectrum.

## Who gets it

Estimated at 1 in 50,000 people. No specific data for Colombia.

## Causes

- Variants in at least 12 PEX genes; PEX1 accounts for most cases
- Autosomal recessive inheritance

## Risk factors

- Affected sibling
- Carrier parents (consanguinity raises the risk)

## Pathophysiology

Without peroxins, peroxisomal enzymes do not reach the peroxisome and stay inactive in the cytosol. β-Oxidation of very-long-chain fatty acids, α-oxidation of phytanic acid, plasmalogen synthesis (myelin lipids) and bile acid synthesis fail together. Very-long-chain fatty acids build up and, with the lack of plasmalogens, disturb neuronal migration and myelin, injure the liver and cause renal cysts and cartilage calcifications.

## Classification

- Zellweger syndrome (severe, neonatal)
- Neonatal adrenoleukodystrophy (intermediate)
- Infantile Refsum disease (mild)

## Symptoms and signs

- Severe hypotonia and feeding difficulty in the newborn
- Typical facial features: high forehead, large fontanelle, flat face
- Seizures
- Hepatomegaly and jaundice
- Loss of vision and hearing

## Red flags

- Very floppy newborn with seizures
- Prolonged jaundice with hepatomegaly
- Severe developmental delay

## Diagnosis

**Clinical**
Suspected with profound neonatal hypotonia, characteristic facial features, seizures and [liver](https://durgical.com/en/anatomy/liver/) failure.

**Tests**
Raised plasma very-long-chain fatty acids (C26:0 and C26/C22 ratio); high phytanic, pristanic and pipecolic acids; low red-cell plasmalogens; PEX gene panel.

**Imaging**
Brain MRI with polymicrogyria and abnormal myelin; X-rays with stippled calcification of the patellae; ultrasound with renal cysts.

## Treatment

**Conservative**
Supportive care by a multidisciplinary team (neurology, hepatology, nutrition)

**Medical**
Seizure treatment and fat-soluble vitamin supplements

**Lifestyle**
Nutritional support; in some cases dietary phytanic acid is restricted

**Follow-up**
Checks of vision, hearing, liver and adrenal function

## Complications

- Liver failure
- Adrenal insufficiency
- Hard-to-control epilepsy
- Respiratory infections

## Prognosis

In the classic form most children die in the first year; milder forms can reach adulthood with disability.

## Prevention

- Genetic counselling and prenatal diagnosis in families with a case.

## Test yourself

Think of the answer, then tap the question to see it.

## Which organelle fails in Zellweger syndrome?

The peroxisome: the peroxins that import its enzymes are missing.

## Which biochemical finding is the first test in the Zellweger spectrum?

Raised plasma very-long-chain fatty acids (C26:0).

## Why is myelin abnormal in Zellweger syndrome?

The plasmalogens made by the peroxisome are missing and very-long-chain fatty acids build up.

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## Related conditions

- [Refsum disease (adult)](https://durgical.com/en/conditions/refsum-disease/)
- [X-linked adrenoleukodystrophy](https://durgical.com/en/conditions/x-linked-adrenoleukodystrophy/)
- [Epilepsy and seizures](https://durgical.com/en/conditions/epilepsy-and-seizures/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Zellweger spectrum disorder: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/zellweger-spectrum-disorder/) (MedlinePlus, US National Library of Medicine, 2026); [PEX1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/pex1/) (MedlinePlus, US National Library of Medicine, 2026); [Peroxisomal lipid metabolism](https://reactome.org/PathwayBrowser/#/R-HSA-390918) (Reactome, 2026).

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Source: https://durgical.com/en/conditions/zellweger-syndrome/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/zellweger-syndrome/