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Alkaptonuria, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

Alkaptonuria is a rare disorder experienced by someone when there is a buildup of homogentisic acid in the body. As a result, urine or some parts of the body look dark or black over time, causing a number of health problems.

Alkaptonuria is a genetic disorder inherited from parents. Symptoms of this disease are often ignored at first and only visible after the sufferer reaches the age of the late 20s or early 30s. This occurs because the buildup of acid homogentisate occurs slowly. As a result of the accumulation of these substances, cartilage, tendons, bones, nails, or ears become dark or blackish in color. Alkaptonuria sufferers can still live normally, even though their quality of life can be disrupted due to problems with joint pain or heart problems.

Alkaptonuria, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

Symptoms of Alkaptonuria

Symptoms of alkaptonuria can occur from infancy, although often these symptoms are ignored because initially, they are not clearly visible. At the time of the baby, the initial symptoms are usually marked by black stains on the baby's diaper. Symptoms appear clearer as you age, especially in the eyes, ears, nails or skin, and other body organs. These symptoms include:

  • Symptoms of nails and skin, in the form of discoloration of sweat, nails turn blue, and skin color changes, especially on the forehead, cheeks, armpits, and genital area.
  • Symptoms in the eye, in the form of brown or gray stains on the white part of the eye.
  • Symptoms in the ear, in the form of ear cartilage, become blackish blue (ochronosis), and earwax becomes black or reddish brown.
  • Early symptoms of osteoarthritis, such as pain or stiffness in the joints and spine, shoulders, pelvis or knees. These symptoms generally begin to appear from the age of 20 or 30 years.
  • Other symptoms, including shortness of breath or difficulty breathing, blood vessels become stiff and weak, heart valve disease and the formation of kidney, prostate, or bladder stones.

Causes and Risk Factors of Alkaptonuria

Under normal circumstances, the body will break down two compounds forming proteins (amino acids), namely tyrosine and phenylalanine through a series of chemical reactions. But in alkaptonuria conditions, the body cannot produce sufficient amounts of the homogentisate oxidase enzyme. The enzyme is needed to break down the results of tyrosine metabolism in the form of homogentisate acid. As a result, homogentisate acid accumulates and becomes black or dark pigments in the body, while others are released through urine.

The inability of the body to produce homogentisate oxidase enzymes is caused by a mutation in the gene producing the enzyme, namely the homogentisate 1,2-dioxygenase (HGD) gene. This disorder is inherited autosomal recessive, which means that the mutation of the gene must be lowered from the two new parents causing this disorder, not just one.

Diagnosis of Alkaptonuria

Diagnosis of alkaptonuria can be done if someone is suspected of experiencing symptoms of this disease, such as urine, brown or black when exposed to air. To be sure, the doctor can do a urine examination, especially to see the presence of homogentisate acid in urine. In addition, DNA tests were also carried out to see if there was a mutation in the body's HGD gene.

Alkaptonuria treatment

Treatment measures need to be taken immediately when someone is diagnosed with alkaptonuria. If this condition is detected while still a child, what can be done is to slow down the rate of disease by applying a low-protein diet to reduce levels of tyrosine and phenylalanine in the body. In addition, doctors will also recommend the administration of vitamin C to slow down the buildup of acid homogentisates in bone and cartilage.

Another treatment that can be done is by giving a drug called nitisinone. Although until now there is no drug that can specifically overcome alkaptonuria, nitisinone can be given to reduce the levels of homogentisate acid in the body. Nitisinone is an inhibitor of enzymes that form homogentisate acid.
To overcome the symptoms or prevent complications that can be caused by alkaptonuria, doctors will usually advise patients to:

  • Take painkillers and anti-inflammatory drugs to treat joint pain.
  • Undergoing Physiotherapy is done with the help of a tool called transcutaneous electrical nerve stimulation (TENS) to make the spinal cord nerve become numb so that the pain subsides.
  • Do mild exercise regularly. Alkaptonuria sufferers often experience joint pain or stiff joints. To inhibit the severity and to help strengthen muscles and joints, patients need to do light exercise, such as swimming regularly. Another light exercise, such as yoga and pilates can also be done. It is recommended to avoid strenuous exercise and be vulnerable to physical contacts, such as soccer or boxing, to prevent injury to the joints.
  • Emotional support. Alkaptonuria sufferers may experience anxiety or depression due to disturbing health conditions throughout life. Therefore, emotional support is needed for patients and their families to be able to live it.

If alkaptonuria causes damage to other joints or organs, surgery may be recommended. This procedure is performed in half of the cases of alkaptonuria sufferers over the age of 50 or 60 years. The type of surgery that is usually performed on the joint is hip or knee replacement surgery. While the type of surgery on the heart organ is generally done when the hardened heart valve is a heart valve replacement surgery.
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