A child presents with hypotonia and seizures. It was confirmed to be cerebrohepatorenal syndrome. Which of the following is accumulated in the brain in cerebrohepatorenal syndrome?
Cerebrohepatorenal syndrome or Zellweger's syndrome is characterised by abnormalities in the synthesis of bile acids and a marked reduction of plasmalogens. Long-chain fatty acids are accumulated in Zellweger's syndrome. It is a rare inherited absence of peroxisomes. It is due to mutations in genes encoding proteins called peroxins, involved in peroxisome biogenesis. Such individuals accumulate C26-C38 polyenoic acids in brain tissues and also exhibit a generalised loss of peroxisomal functions. It causes severe neurological symptoms and most patients die in first year of life. Treatment is often suppoive and symptom-based. Reference: Harper's Illustrated Biochemistry 31st edition Page nos 215
Glucose
Long chain fatty acid
Triglycerides
Lactic acid
Metabolism of lipid