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Keyword - Peroxisome biogenesis disorder (KW-0958)

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Definition

Protein which, if defective, causes peroxisome biogenesis disorder, a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata type 1 (RCDP1). ZWS, NALD and IRD are distinct from RCDP1 and constitute a clinical continuum of overlapping phenotypes known as Zellweger spectrum. The PBD group is genetically heterogeneous with at least 12 distinct genetic groups as concluded from complementation studies.

Synonyms

  • PBD
  • Peroxisome-biogenesis disorder

Category

Disease

Graphical

DiseasePeroxisome biogenesis disorder

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