RESUMO
Peroxisome biogenesis disorders, Zellweger syndrome spectrum [PBD, ZSS] are constituted of three different phenotypically disorders: Zellweger syndrome [ZS], the most severe; neonatal adrenoleuko-dystrophy [NALD]; and infantile refsum disease [IRD], the least severe, that have been originally described based on their biochemical and molecular bases of these disorders which had been fully determined. Individuals with PBD, ZSS usually come to clinical attention in the newborn period or later in childhood. The diagnosis of PBD, ZSS can be definitively determined by biochemical assays, Measurement of plasma very-long-chain fatty acid [VLCFA] levels is the most commonly used and most informative initial screen. Mutations in thirteen different PEX genes - those that encode peroxins, the proteins required for normal peroxisome assembly - have been identified in PBD, ZSS. Mutations in PEX1, the most common cause of PBD, ZSS, are observed in about 68% of affected individuals. Sequence analysis is available clinically for the following seven genes: PEX1, PXMP3 [PEX2], PRXR1 [PEX5], PEX6, PEX10, PEX12, and PEX26