Which of the Following Mutations is Described Correctly

Question

Which of the following mutations is described correctly?
A) Phenylketonuria: An autosomal recessive disease resulting in the overproduction of phenyalanine hydroxylase
B) Alkaptonuria: An autosomal recessive disease which inactivates homogentistic acid oxidase
C) Albinism: An autosomal dominant trait, which blocks the synthesis of melanin from tyrosine
D) Tyrosinemia: A lack of a tyrosine catabolic enzyme, which leads to an decrease in tyrosine in the blood and urine
E) All of these

Accepted Answer

Alkaptonuria is an autosomal recessive disease that results from a defect in homogentistic acid oxidase, leading to the accumulation of homogentisic acid in the tissues and blood. This leads to dark-colored urine and joint problems. A is incorrect because phenylketonuria results from a deficiency in phenylalanine hydroxylase and leads to the accumulation of phenylalanine, not overproduction. C is incorrect because albinism is an autosomal recessive trait that results from a lack of melanin synthesis. D is incorrect because tyrosinemia results from a deficiency in tyrosine catabolic enzymes, leading to an accumulation of tyrosine and its metabolites in the liver and blood.