[Peroxisomal disorders: classification and overview of biochemical abnormalities].
The peroxisomal disorders are subdivided into two major categories: those in which the organelle is not formed normally (disorders of peroxisome biogenesis), and those that are associated with defects of single peroxisomal proteins. The Zellweger cerebrohepatorenal syndrome is the prototype of the peroxisome biogenesis disorders. It has been shown to be due to defective import of proteins into the organelle. Ten distinct molecular defects can lead to the failure of import.
Moser
H W
HW
Kennedy Krieger Institute, Baltimore, MD, USA.
D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D001678:Organelle Biogenesis; D018901:Peroxisomal Disorders / Q000097:blood* / Q000145:classification* / Q000175:diagnosis; D010641:Phenotype