Zellweger syndrome:
– caused by an inappropriate assembly of peroxisomes secondary to an autosomal recessive mutation in the PEX gene
– characteristic dysmorphic facies (midface hypoplasia, hypoplastic supraorbital ridges, and prominent high forehead) and elevated very-long-chain fatty acids
– other sx: seizures, intellectual disability
* Very long chain fatty acids are exclusively metabolized by peroxisomes
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Other diseases:
Pompe disease
– due to mutation of alpha-glucosidase (a lysosomal hydrolase)
– sx: hypotonia, facial dysmorphisms (macroglossia and wide-open eyes and mouth)
Krabbe disease
– due to dysfunction of galactosylceramidase
– leads to build up of psychosine (a toxic glycosphinoglipid)
– sx: seizure, hypertonia, and microcephaly