Phenylketonuria is caused by mutations in the enzyme phenyla

Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase (PAH), which significantly reduce its enzymatic activity causing abnormally high levels of phenylalanine in the patients’ blood and urine. The most common mutation associated with the disease is the change Arg408Trp at the surface of the protein. Give a possible explanation as to why this mutation would problematic for PAH structure and function

Solution

Explanation :- Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase (PAH), which significantly reduce its enzymatic activity causing abnormally high levels of phenylalanine in the patients’ blood and urine. The most common mutation associated with the disease is the change Arg408Trp at the surface of the protein. This effects the protein structure and function because amino acid particukarly agrenine is basic amino acid that maintains folded form of enzyme and makes it functional but mutation at this site causes misfolding of tge enzyme there by loss of function.