Question

A patient is asked to collect a urine specimen at home by their primary care physician....

A patient is asked to collect a urine specimen at home by their primary care physician. They collect the urine, but get side tracked and forget to put the cap on the cup. Several hours later, after the urine has sat exposed to air for some time, the patient comes back and is shocked to find their urine has turned black!

What could be the underlying cause of the dark urine?

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Answer #1

Dark urine is the result of a mutation in enzyme homogentisate oxidase. Homogentisate oxidase breaks down phenylalanine and tyrosine. Due to the mutation, homogentisic acid starts accumulating in the body. Due to its accumulation, homogentisic acid is excreted out of the body through urine. homogentisic acid, when exposed to air, turned into dark coloured, that result in dark color urine when exposed to air.

So, the cause of the dark urine is mutation in the homogentisate oxidase gene.

Please write to me if you need more help.

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