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Biochemistry General e5d5633b

Mutation in the oxidative enzymes (peroxisomes) could lead to:

A
Zellweger's syndrome
B
Gaucher's disease
C
Epidermolysis bullosa
D
Leber's neuropathy
High-Yield Explanation
Most cases of zellweger syndrome are due to mutations in genes involved in the biogenesis of  peroxisomes. This condition is apparent at birth and is characterized by profound neurologic impairment, victims  often dying within a year. The number of peroxisomes can vary from being almost normal to being virtually absent in some  patients. Key Concept: Mutation in peroxisomes can lead to Zellweger’s syndrome. Ref : Harper’s illustrated biochemistry, 31st edition.

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