Alcaptonuria, also known as ochronosis, is a rare disease characterized by an error in the metabolism of the amino acids phenylalanine and tyrosine, due to a small mutation in DNA. This disease is caused by a lack of enzyme, dioxygenase homogentisate or homogentisate oxygenase, which leads to the accumulation of homogentisic acid, which is an intermediate compound of the metabolism of these amino acids and which, under normal conditions, is not detectable in the blood. .
Alcaptonuria has no cure, however treatment reduces symptoms, it is recommended to follow a diet low in foods containing phenylalanine and tyrosine, in addition to increasing the consumption of foods rich in vitamin C, such as lemon for example.
- Symptoms of alcaptonuria usually appear early in infancy.
- When they are noticed.
- For example.
- Darker urine and spots on the skin and ears.
- However.
- Some people don’t have symptoms until after age 40.
- Making treatment difficult and symptoms are generally more severe.
In general, symptoms of alcaptonuria include
Dark pigment can build up on the skin in the arm and groin areas that, when sweating, can pass into clothing. It is common for a person to have difficulty breathing due to the process of rigid rib cartilage and hoarseness due to the rigidity of the hyaline membrane. In the later stages of the disease, acid can build up in the veins and arteries of the heart, which can cause serious heart problems.
Diagnosis of alcaptonuria is made by analyzing symptoms, mainly by the dark coloration characteristic of the disease that appears in various parts of the body, in addition to laboratory tests that aim to detect the concentration of homogencytic acid in the blood, mainly, or to detect the mutation by molecular examinations.
Treatment of alcaptonuria is intended to relieve symptoms, as it is a recessive genetic disease. For example, pain relievers or anti-inflammatory pains may be recommended to relieve joint pain and cartilaginous stiffness, as well as physiotherapy sessions, which can be performed by corticoid infiltration, to improve mobility of affected joints.
In addition, it is recommended to follow a diet low in phenylalanine and tyrosine, as they are precursors of homogeneous acid, so it is recommended to avoid consuming cashews, almonds, Brazil nuts, avocados, mushrooms, egg white, banana, milk and beans, for example.
It is also suggested to take vitamin C, or ascorbic acid, as a treatment because it is effective at reducing the accumulation of brown pigments in cartilage and developing arthritis. Learn more about ascorbic acid.