Alkaptonuria is a very uncommon inborn error of amino acid metabolism caused by a deficiency in the enzyme homogentisic acid (HGA) oxidase, which causes HGA to accumulate in the body's tissues such cartilage and plasma and be excreted in the urine.
The likelihood that their subsequent child will be born with alkaptonuria is 1/4 if the ailment is genetic like the majority of human diseases. A hereditary disease called alkaptonuria causes urine to turn dark from birth. Additional symptoms, however, typically don't surface until adulthood. Symptoms typically advance gradually. Alkaptonuria patients' urine may be unusually dark or it may turn black after prolonged exposure to the air. Nevertheless, because this transition typically takes several hours, it frequently passes unnoticed. Diapers may become discolored black during infancy.
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