Abstract:Among the Zellweger spectrum disorders of peroxisomal biogenesis, Zellweger syndrome (ZS) is the most severe of identified disorders in this spectrum. Clinical features include facial dysmorphism, neuronal migration defects, failure to thrive, and hearing and visual impairment. Intracellular accumulation of very-long-chain fatty acid (VLCFA) damages developing organs (eg, liver, bone, kidneys, brain).It is diagnosed by estimating VLFCA and plasmalogen levels and genetic testing modalities. Mutations in the PEX… Show more
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