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?
Correct Answer: Long chain fatty acid
Description: 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
Category:
Biochemistry
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now