Disorders of peroxisome assembly and function
The peroxisome biogenesis disorders are a heterogeneous group of rare autosomal recessive diseases. The underlying defect is the failure to form functional peroxisomes, resulting in deficiencies of multiple enzymes targeted to this organelle and progressive, multisystem diseases. Two clinical categories of disease are distinguished: Zellweger spectrum and rhizomelic chondrodysplasia punctata spectrum.
Jan. 16, 2021