Queston #6733Note

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 


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