This is a very rare hereditary disease for which the patient’s urine turns black. It belongs to a group of diseases that are classified as inborn errors of metabolism due to hereditary causes.
A defect in the HGD gene causes alkaptonuria. This gene abnormality causes the body to be unable to properly break down certain amino acids, particularly tyrosine and phenylalanine. Therefore, homogentisic acid accumulates in the skin and is excreted from the body through urine, which turns brown-black when exposed to air.
Alkaptonuria is hereditary. If both parents carry a copy of the defective gene, each of their children has a 25% (1 in 4) chance of developing the disease.
Black urine is the main symptom of the disease, but sometimes others occur, such as arthritis or the appearance of dark spots in the eyes.
A urine test can tell if a person has alkaptonuria by mixing the urine with ferric chloride.
In many cases, taking vitamin C allows the patient to achieve rapid improvement.
When considering having children, it is advisable to carry out genetic testing to find out whether there is a risk of transmitting the disease.
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