Child presents with hypotonia and seizures. It was confirmed to be zellweger syndrome. Which of the following accumulates in brain?
Glucose
Lactic acid
Long chain fatty acid
Triglycerides
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.