Child presents with hypotonia and seizures. It was confirmed to be zellweger syndrome. Which of the following accumulates in brain?
Correct Answer: Long chain fatty acid
Description: Zellweger syndrome It is also called as Cerebro-Hepato-Renal Syndrome. It is a rare, autosomal recessive disorder. Absence of Peroxisomes in almost all tissues, peroxisomes are responsible for oxidation of very long chain fatty acids which contain more than 22 carbons. Clinical features: Severe neurological symptoms such as Impaired neuronal migration, hypomyelination, hepatomegaly, renal cysts. Accumulation of very long chain fatty acids in brain, with carbon number > 22 Most patients die within 1st year of their life.
Category:
Biochemistry
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