Peroxisomal disorder is-
Ans. is 'a' i.e., Zellweger Syndrome* Zellweger syndrome is a peroxisomal biogenesis disorder and it is one of the leukodyctrophies .* Zellweger syndrome is caused by mutation of peroxin genes. Peroxins are necessary for normal assembly of peroxisomes. Peroxisomes are necessary for VLCFA oxidation. When peroxisomes are not assembled, VLCFAs accumulate and they are toxic to multiple organs.* Cerebral involvement presents as impaired neuronal migration, brain development and as hypomyelination. Hypomyelination is the reason form deafness and blindness. They also present with craniofacial abnormalities (hypoplastic supraorbital ridges, epicanthal folds, large fontanel), hepatomegaly, renal cysts. Hence Zellweger syndrome is otherwise called as cerebrohepatorenal syndrome.
Zellweger Syndrome
MEALS
LHON
MERRF
Lipids