Zellweger syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Zellweger syndrome. This s a peroxisome biogenesis disorder (PBD). Fully referenced neurology checklist.
Genetics and pathology
- This s a peroxisome biogenesis disorder (PBD)
- It is caused by mutations in the PEX1 gene on chromosome 7q
- The gene encodes peroxin 1 (PEX1): this is an ATPase
- The mutation results in accumulation of very long chain fatty acids (VLCFA)
Developmental features
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Ophthalmic features
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Systemic features
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Other features
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Differential diagnosis
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References
- Rosewich H, Ohlenbusch A, Gärtner J. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet 2005; 42:e58.
- Lee PR, Raymond GV. Child Neurology: Zellweger syndrome. Neurology 2013; 80:e207-e210.
- FitzPatrick DR. Zellweger syndrome and associated phenotypes. J Med Genet 1996; 33:863-868.
- Zhong JW, Ye HW, Xu K, Xie Y, Zhang XH, Li Y. A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome. Zhonghua Yan Ke Za Zhi 2022; 58:788-792.
