Hereditary disease in which urine turns black on exposure due to the presence of homogentisic acid is
A
Ketonuria
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B
Phenylketonuria
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C
Haematuria
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D
Alkaptonuria
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Solution
The correct option is D Alkaptonuria
Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken.