The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). These three disorder
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder
β Scribed by Gootjes, Jeannette; Schmohl, Frank; Waterham, Hans R; Wanders, Ronald J A
- Book ID
- 110025499
- Publisher
- Nature Publishing Group
- Year
- 2003
- Tongue
- English
- Weight
- 107 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1018-4813
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The PEX6 (peroxisome assembly factor-2, PAF-2) gene encodes a member of the AAA protein (ATPases associated with diverse cellular activities) family and restores peroxisome assembly in fibroblasts from peroxisome biogenesis disorder patients belonging to complementation group C (group 4 in the Unite
Diseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum represents a clinical continuum, with Zellweger syn
## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal