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Peroxisomal Disorders

A Review of a Recently Recognized Group of Clinical Entities

Division of Pediatric Neurology, University of Minnesota Medical School, Minneapolis, Minnesota

Kenneth F. Swaiman, MD

Division of Pediatric Neurology, University of Minnesota Medical School, Minneapolis, Minnesota

The peroxisome is a small organelle present in almost all cells. The peroxisomal disorders are a newly recognized group of disease entities that share structural and/or functional abnormalities of the peroxisomes, are inherited, and may have profound neurologic and systemic effects. Some of the disorders lack peroxisomes in cells, while others have single or multiple peroxisomal enzymatic deficiencies despite the presence of normally appearing peroxisomes. The prototype of the peroxisomal disorders is Zellweger syndrome. X-linked adrenoleukodystrophy, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidemia and Refsum disease are some of the other disease entities presently classified as peroxisomal disorders. Accurate methods of pre- and postnatal diagnosis are available. Treatment strategies are being developed, but at this time prenatal diagnosis and appropriate genetic counseling is the best therapeutic intervention for those peroxisomal disorders characterized by profound neurologic handicap and early death.

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				J. J. Pietrzyk, D. Turowska-Heydel, M. Klimek, F. Kaczmarski, and J. Kaluza Two Siblings with Phenotypes Mimicking Peroxisomal Disorders but with Discordant Biochemical Findings Clinical Pediatrics, August 1, 1990; 29(8): 479 - 484. [Abstract] [PDF]