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Q.
Identify a Mendelian disorder from the following
J & K CETJ & K CET 2008
Solution:
Mendel described the inheritance of recessive and dominant genes. Phenylketonuria (PKU) is an autosomal recessive mutation of gene on chromosome $12$. PKU results when there is a deficiency of liver enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. There is a high level phenylalanine in their blood interferes with brain development, muscles and cartilages of the legs may be defective and the patients cannot walk properly.