Zellweger syndrome: Difference between revisions

Revision as of 00:41, 12 July 2007

Revision as of 00:57, 12 July 2007

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'''Zellweger syndrome''' is a rare, [[congenital disorder]] (present at birth), characterized by the reduction or absence of [[peroxisome]]s (cell structures that rid the body of toxic substances) in the cells of the [[liver]], [[kidney]]s, and [[brain]].

==Causes==
It is characterized by an individual's inability to [[beta-oxidation|beta-oxidize]] very-long chain [[fatty acids]] in the [[peroxisome]]s of the cell, due to a [[genetic disorder]] in one of the several genes involved with [[peroxisome]] [[biogenesis]].

Several [[peroxin]]s are associated with Zellweger syndrome, including 1, 2, 3, 5, 6, 12, 14, and 26.<ref>{{cite web |url=http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=214100 |title=OMIM - ZELLWEGER SYNDROME; ZS |accessdate=2007-07-11 |format= |work=}}</ref>

==Family==
The disorder is one of three [[peroxisome biogenesis disorders]] which are also known as the Zellweger spectrum. The other two diseases are [[neonatal adrenoleukodystrophy]] (NALD), and [[infantile Refsum disease]] (IRD)<ref>http://www.genetests.org/query?dz=pbd</ref>

==Eponym==