Peroxisomal disorders. Biochemical and clinical diagnostic considerations
I. Singh, G. H. Johnson and F. R. Brown 3rd
Department of Pediatrics, Medical University of South Carolina, Charleston 29425.
The peroxisomal disorders are a group of inherited metabolic diseases with
serious clinical sequelae. The number of recognized peroxisomal disorders
has increased substantially since 1973, when an absence of peroxisomes was
observed in patients with the cerebro-hepato-renal (Zellweger's) syndrome.
More subtle peroxisomal dysfunction is now recognized, including that
deriving from single peroxisomal enzymes. Peroxisomal disorders are
relatively rare. However, these disorders assume importance because of our
growing ability to relate clinical sequelae to specific enzymatic and
biochemical deficits, because some of these disorders can now be identified
prenatally and their recurrence can be prevented, and because therapies are
rapidly evolving. We reviewed these disorders in light of increasing
understanding of the biochemistry of the peroxisome.