title: Peroxisome biogenesis disorders.
abstract: Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly.
authors.affiliation: Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Steven.Steinberg@kennedykrieger.org
authors.forename: Steven J
authors.initials: SJ
authors.lastname: Steinberg
authors.forename: Gabriele
authors.initials: G
authors.lastname: Dodt
authors.forename: Gerald V
authors.initials: GV
authors.lastname: Raymond
authors.forename: Nancy E
authors.initials: NE
authors.lastname: Braverman
authors.forename: Ann B
authors.initials: AB
authors.lastname: Moser
authors.forename: Hugo W
authors.initials: HW
authors.lastname: Moser
mesh_terms: D000595:Amino Acid Sequence; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D008969:Molecular Sequence Data; D018901:Peroxisomal Disorders / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism*; D020675:Peroxisomes / Q000235:genetics / Q000378:metabolism*; D010875:Pipecolic Acids / Q000378:metabolism; D010955:Plasmalogens / Q000378:metabolism; D052919:Refsum Disease, Infantile / Q000235:genetics / Q000378:metabolism; D015211:Zellweger Syndrome / Q000235:genetics / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D010875:Pipecolic Acids; D010955:Plasmalogens; C031345:pipecolic acid