Zellweger Syndrome

- A genetic abnormality in the translocation of proteins into peroxisomes, leading to peroxisomal enzyme deficiencies, is seen in Zellweger syndrome, caused by a gene mutation in an integral membrane (peroxisome assembly factor-1).  In homozygotes, this is usually fatal shortly after birth.
- A genetic disease that is based on peroxisomal defect.

Reference:
1. Color Atlas of Cytology, Histology, and Microscopic Anatomy 4th Edition. Wolfgang Kuehnel, M.D. Thieme Publications. 2003.

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