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Peroxisomal DisordersBiochemical and Clinical Diagnostic Considerations
Inderjit Singh, PhD;
Graeme H. Johnson, MB, ChB;
Frank R. Brown III, PhD, MD
Am J Dis Child. 1988;142(12):1297-1301.
Abstract
• 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 cerebrohepato-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.
(AJDC 1988;142:1297-1301)
Author Affiliations
From the Department of Pediatrics, Medical University of South Carolina, Charleston.
Footnotes
Accepted for publication July 19, 1988.
Reprint requests to Medical University of South Carolina, 171 Ashley Ave, Charleston, SC 29425 (Dr Brown).
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