What is the biochemical defect in the Zellweger syndrome?
Correct Answer: Peroxisomal biogenesis disorder
Description: Ans. A. Peroxisomal biogenesis disorderBiochemical defect in Zellweger SyndromeThere is gene defects, involving mainly the import of proteins that contain the PTS1 targeting signal* Zellweger syndrome (most severe)Clinical picture* Typical facial appearance (high forehead, unslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds)* Severe weakness and hypotonia, neonatal seizures* Eye abnormalities (cataracts, glaucoma, corneal clouding, Brushfield spots, pigmentary retinopathy, and nerve dysplasia)* Because of the hypotonia and "mongoloid" appearance, Down syndrome may be suspected
Category:
Biochemistry
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