In a child with cerebrohepatorenal syndrome and with hypotonia and hepatomegaly, the probable biochemical defect is accumulation of:
Ans. C. Very long chain fatty acids (VCLFAs)Cerebrohepatorenal syndrome is also known as Zellweger syndrome, a rare congenital disorder. It is caused due to the reduction or absence of the peroxisomes in the cell. Peroxisomes are the site of oxidation of VCLFAs.Deficiency of peroxisomes leads to increased concentration of VLCFAs.
Pyruvate
Short chain fatty acids
Very long chain fatty acids
Acetyl CoA
Lipids