Principle of Inheritance and VariationMedium
Question
Which one is a hereditary disease ?
Options
A.Catatact
B.Leprosy
C.Blindness
D.Phenylketonuria
Solution
Phenylketonuria was discovered by the Norwegian physicisn A Fooling in 1934, an autosomal recessive mutation of gene on chromosome 12. Phenylketonuria results when there is a deficiency of live enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Increased phenylalanine in the blood interferes with brain development, muscles and cartilage of the legs may be defective and the patients cannot walk properly.
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