Rare and unhealthy disease is genetic and consists of the accumulation of homogenic acid in the body.
Alcaptunuria, commonly known as “Black urine disease“It is a rare genetic disease that affects between 1 in 250,000 and 1 in 1 million people worldwide.
The disease results from a genetic mutation that prevents the proper decomposition of certain protein components, leading to Accumulation of a harmful chemist in the body. Although rare, alkaponuria can significantly affect a person’s quality of life, especially as it gets older.
The reach was documented in More than 1000 cases In medical literature, with individuals of any sex or ethnicity likely to develop the disease.
However, it is an autosomal recessive disease, which means that a person has to inherit two defective copies of the gene – One of each parent – to develop symptoms. People who inherit only one defective gene continue to be carriers without health problems.
The disease is caused by a mutation in the 1,2-dioxigenase (HGD) homogentisate gene, which encodes an enzyme responsible for the degradation of certain amino acids present in the proteins. When this enzyme is defective, the Homogenic acid accumulates not organism.
Over time, this accumulation leads to damage to various tissues, particularly in connective tissues such as cartilage, which can cause severe complications.
One of the first signs of alkaponuria appears in childhood: Dark urine spots on diapers Due to the fact that homogenic acid becomes black when exposed to the air.
However, most affected individuals have no significant symptoms by the end of the 20th or early 30s, explains the.
As the disease progresses, acid is deposited in connective tissues, gradually causing its darkening and deterioration. This results in chronic pain in joints, spine deformations and mobility problems.
In some cases, vital organs such as kidneys and hearts can also be affected. Symptoms tend to develop earlier and more seriously in men than in women.
Despite its significant impact on daily life, alkaponuria does not usually reduce life expectancy. However, the disease can cause severe disability, with many patients need surgery of joint replacement- normally involving hip, knee or shoulder- at 50 or 60 years of age.
At the moment, There is no cure For reach, although the ongoing investigation is exploring potential treatments. A promising drug that is being investigated is Nitisinona, which can help slow the progression of the disease.
However, treatment focuses on symptom control, including pain relief, physiotherapy and diet adjustments. Some patients benefit from a Poor Protein Diet to reduce acid accumulation.
