Alkaptonuria (Alkaptonuria, Alkaptonuria)

Alcaptonuria (Alcaptonuria, Alkaptonuria) is a rare congenital disease that is associated with the lack of an enzyme necessary for the normal breakdown of the amino acids tyrosine and phenylalanine. This condition causes a buildup of homogentisic acid in the body, leading to a number of serious health problems.

Alkaptonuria is a recessive genetic disorder, meaning that for it to occur there must be two copies of the defective gene - one from each parent. This also means that if only one parent carries the defective gene, the child will not have alkaptonuria, but may become a carrier of the gene and pass it on to their offspring.

One of the most striking manifestations of alkaptonuria is darkening of the skin and eyes. The skin and sclera of the eyes acquire a dark brown tint, which is associated with the accumulation of ochronic acid in the tissues. This condition is called ochronosis and usually becomes noticeable after age 30.

Ochronosis also leads to progressive damage to the joints, especially the spine. Chronic joint pain and limited movement can significantly impair a patient's quality of life. In addition, the accumulation of ochronic acid can lead to the formation of kidney and bladder stones.

The diagnosis of alkaptonuria is made based on a urine test, which shows the presence of homogentisic acid. There is currently no direct treatment for alkaptonuria. Treatment is aimed at relieving symptoms and managing complications such as joint disease and kidney stones. In some cases, surgery may be required.

Overall, alkaptonuria is a rare but serious condition that can significantly reduce a patient's quality of life. Early recognition and management of symptoms can help improve prognosis and prevent complications from developing.

Alkaptonuria is a large group of various inborn errors of metabolism that lead to increased accumulation of homogentinic and tyrosinic acids. An important condition for its development is the presence of a deficiency of the enzyme oxidase, which decomposes homogentic acid. The enzyme is synthesized in many tissues, and these substances can accumulate mainly in urine and skin. The disease occurs only in males and females; this is a rare genetic disorder that can be carried by both parents. If it occurs after birth, it will be possible to observe increased deformation of the keratin proteins of the skin and hair shafts - at the same time, they become discolored and lose their shine. Since the retinal pigment is also affected, retinopathy occurs quickly. The pathology negatively affects all internal organs and often leads to death. The main method of treatment is replacement therapy, aimed at enriching the body with medications with a high content of protective enzymes.