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Peroxisomal disorders.

Matthias R Baumgartner·Jean Marie Saudubray
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Abstract

Peroxisomes are subcellular organelles catalyzing a number of indispensable functions in cellular metabolism. The importance of peroxisomes is stressed by the existence of an expanding number of genetic diseases in which there is an impairment of one or more peroxisomal functions. The prototype of this group of diseases is the cerebro-hepato-renal syndrome of Zellweger (ZS), first described as a familial syndrome of multiple congenital defects in 1964. ZS is characterized by the presence of dysmorphias and polymalformative syndrome, severe neurologic abnormalities including neurosensory defects and hepato-intestinal dysfunction with failure to thrive and usually early death. Other peroxisomal disorders share some of these symptoms, but with varying degrees of organ involvement, severity of dysfunction and duration of survival. This paper provides an overview of the peroxisomal disorders including their clinical, biochemical and molecular characteristics with particular emphasis on the clinical presentation in neonates.

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Diagnosis, DifferentialHumansInfant, NewbornPeroxisomal DisordersPeroxisomesPrenatal DiagnosisPrognosisJournal ArticleReview

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BibTeXRIS

Matthias R Baumgartner, Jean Marie Saudubray. 2002. Peroxisomal disorders.. https://doi.org/10.1053/siny.2001.0089

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