Alkaptonuria Symptoms, Causes, Diagnosis and Treatment

What is Alkaptonuria?

This medical condition, alkaptonuria is basically a rare inherited condition which causes your urine color turns black particularly when it is exposed to the air. In addition to this, Ochronosis, (dark pigment buildup in the connective tissues for example skin and cartilage) is also the characteristic of alkaptonuria. Such bluish-blackish pigmentation mostly appears after crossing the age thirty.

Sadly, individuals with the condition normally develop arthritis, mostly in the large joints and spine, beginning in the early adulthood. Moreover, further features of alkaptonuria tend to include kidney stones, prostate stones and heart problems.

What are the Causes of Alkaptonuria?

HGD gene defect tend to cause the condition. This gene defect basically makes your body unable to break down particular amino acids properly (Phenylalanine and tyrosine). Thus, homogentisic acid (a substance) builds up in other tissues of the body and skin. Such acid then leaves your body through your urine. As a result, the color of the urine turns into brownish-black while it mixes with the air.

The condition is also inherited. Which indeed means it passes on from the parents to their children. In case, both the parents tend to carry a defective gene which is related to alkaptonuria, then all of their children have a twenty five percent chance to develop the condition.

What are the Symptoms of Alkaptonuria?

Numerous individuals suffering from the condition might not realize they have alkaptonuria until their mid-adulthood, when other problems start occurring. The symptoms if the condition includes:

• Ear darkening.
• Arthritis (particularly of your spine) that worsens over the time.
• Dark spots on sclera and cornea.

What are the alternative names of the condition?

Few alternatives names are alcaptonuric ochronosis, hemogentisic acid oxidase deficiency, alcaptonuria and AKU.

What are the possible complications?

• Individuals suffering from alkaptonuria get arthritis mostly in adulthood.
• Prostate stones and kidney stones.
• Building up of homogentisic acid on your heart valves, particularly on your mitral valve.
• Chances to develop coronary artery disease.

When is the high time to consult a doctor?

In case you notice your child’s urines or your urine becoming black or of dark brown color when exposed to the air, then its high time to visit your doctor.

What are the Preventions of Alkaptonuria?

Genetic counseling, for individuals with the family history of the condition is recommended for those planning a baby. Blood test must be conducted in order to see the presence of gene for the condition. Moreover, prenatal tests (chorionic villus sampling or amniocentesis) must be conducted to screen your developing baby for alkaptonuria, in case, genetic changes is identified.

How is Alkaptonuria Diagnosed?

The diagnosing process is quite simple. Urinalysis (urine test) is conducted to test the possibility. Furthermore, to check the possibility of the condition, ferric chloride is added in the urine, if the color of the urine turns black, this means the person is suffering from alkaptonuria.

What is the Treatment of Alkaptonuria?

Few sufferers tend to benefit from vitamin C high dosage. The treatment has proved to decrease brown pigment build-up in your cartilage whilst slowing arthritis development. Low protein diet is advice in order to reduce the levels of amino acids.

 

By : Natural Health News