Zellweger’s syndrome is an X-linked autosomal recessive disorder of peroxisomal biogenesis with an absence of the peroxisome. There is a wide range of characteristic dysmorphic features and cerebrohepatorenal involvement. Laboratory studies characteristic of Zellweger’s syndrome include (1) elevated levels of pipecolic acid in plasma, cerebrospinal fluid (CSF) and urine; (2) elevated levels of saturated (C26) and monosaturated (C26 : 1) VLCFA in plasma, body fluids, and tissues with an elevated C26 : 0/C22 : 0 ratio; (3) decreased (<10% of normal) tissue level of phosphatidyl ethanolamine plasmalogen, a phospholipid constituent of myelin and platelet-activating factor; and (4) deficient activity of dehydroxyacetone phosphate acyltransferase, the key enzyme in the pathway for plasmalogen synthesis (located in the peroxisomal membrane).
KeywordsZona Fasciculata Peroxisomal Membrane Pipecolic Acid Zellweger Syndrome Peroxisomal Disorder
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11 Peroxisomal Disorders
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