Peroxisomal disorders

Evidence-based neurology checklist on peroxisomal disorders: 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

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

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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