Zellweger syndrome
Evidence-based neurology checklist on zellweger syndrome: 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…
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
Ophthalmic features
Systemic features
Other features
Differential diagnosis
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.
