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Peroxisomes are responsible for a number of important metabolic reactions, including synthesis of glycerol ethers, shortening very-long-chain fatty acids so that mitochondrial can completely oxidize them, and oxidation of the side chain of cholesterol needed for bile acids synthesis.

Peroxisome biogenesis disorders (PBDs) are more than 25 genetically and phenotypically related disorders that involve enzymatic activities of Peroxisomes. They are rare autosomal recessive diseases characterized by abnormalities of the liver, kidney, brain and skeletal system. A number of biochemical abnormalities have been described in PBD patients including decreased levels of glycerol ether lipids (plasmalogens), and increased levels of very-long-chain fatty acids (C24 and C26) and cholestanoic acid derivatives (precursors of bile acids). The most severe condition is Zellweger syndrome, a condition due to the absence of functional Peroxisomes; death frequently occurs by age 6 months. In this condition, the genetic defect is in the mechanism for importing enzymes into the matrix of Peroxisomes. Specific mutations for some PBD conditions have been determined and include donor splice and missense mutations; subsets of the disease include absence of a single metabolic enzyme and defects in membrane transport components. In some instances the disease can be diagnosed prenatally by assay of perxisomal enzymes or fatty acids in cells of amniotic fluid.