It is a very rare hereditary disease that is characterized by the patient’s urine turning black. It is considered in the group of diseases that are included as inborn errors of metabolism due to hereditary causes.
Causes of alkaptonuria
A genetic defect
A defect in the HGD gene is the cause of alkaptonuria. This abnormality in the gene causes the body to be unable to properly break down some amino acids, specifically tyrosine and phenylalanine. Therefore, homogentisic acid accumulates in the skin and is expelled from the body through urine, which turns brown-black when it comes into contact with air.
Alkaptonuria is transmitted hereditarily. If both parents carry a copy of the defective gene, each of their children has a 25% (1 in 4) chance of suffering from the disease.
Symptoms of alkaptonuria
black urine
The black color of urine is the main symptom of the disease, but there are others that sometimes occur, such as arthritis or the appearance of dark spots in the eye.
Diagnosis of alkaptonuria
urine analysis
Urine analysis allows you to find out if the patient suffers from alkaptonuria by mixing the urine with ferric chloride.
Treatment and medication of alkaptonuria
Vitamin C
In many cases, the administration of vitamin C allows the patient to have a rapid improvement.
Prevention of alkaptonuria
Find out if there is a family history
It is advisable when considering having children, to do a genetic study to find out if there is a risk of transmitting the disease.
#Alkaptonuria #symptoms
