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?: (A) Glucose, (B) Long chain fatty acid, (C) Triglycerides, (D) Lactic acid
Answer is B. 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