Which one is a hereditary disease?
Which one is a hereditary disease?
A. Cataract
B. Leprosy
C. Blindness
D. Phenylketonuria
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Correct Answer - D
Phenylketonuria was discovered by the Norwegian physician A Fooling in 1934, an autosomal recessive mutation of gene on chromosome 12. Phenylketonuria results when there is a deficiency of liver 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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