Peroxisomal disorders

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Peroxisomal disorders. Zellweger syndrome: this is the severe variant. Fully referenced neurology checklist.

Zellweger spectrum

  • Zellweger syndrome: this is the severe variant
  • Neonatal adrenoleukodystrophy (NALD): this is the intermediate variant
  • Infantile Refsum’s disease (IRD): this is the mild variant

Other peroxisomal disorders

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References

  1. Lee PR, Raymond GV. Child Neurology: Zellweger syndrome. Neurology 2013; 80:e207-e210.
  2. Rosewich H, Ohlenbusch A, Gärtner J. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet 2005; 42:e58.

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