Zellweger syndrome

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Also known as cerebrohepatorenal syndrome, (CHR Syndrome, ZWS) it is caused by mutations in the genes coding for any of the proteins essential for the formation of peroxisomes. These include peroxin-1, peroxin-2, peroxin-3, peroxin-5, peroxin-6, peroxin-12, peroxin-14 and peroxin-26. Those affected have dysmorphic features, hypotonia and hepatic and renal (eg polycystic) dysfunction. Chondral calcification, most marked in the patellas may develop.Very-long-chain fatty acids, which are usually oxidized in peroxisomes, accumulate and low levels of phosphatidylethanolamine plasmalogen, a major phospholipid of cell membranes is found which is even more characteristic of a peroxisome disorder.

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