Alkaptonuria: Treatment, Procedure, Cost and Side Effects

Black Urine Disease

Alkaptonuria, also known as the Black Urine Disease, is an unusual inherited disorder where the body becomes unable to produce Homogentisic Dioxygenase (HGD) enzyme resulting in accumulation of homogentisic in your body. As a result of this, your bones and cartilage become fragile and discolored. Early symptoms of Alkaptonuria involve discoloration of your urine if left exposed for some time; discoloration of your skin specifically around the sweat glands; arthritis, kidney and prostate stones, black earwax and thickened cartilage etc.

The person suffering from Alkaptonuria, is usually advised a heavy dose of ascorbic acid or vitamin C so that the process of HGD accumulation in your body slows down, although excessive use of vitamin C may prove ineffective in the treatment. The person may also be recommended a low-protein diet. In order to avoid complications like arthritis, heart ailment and kidney stones, anti-inflammatory drugs or narcotics are prescribed for muscle and joint pains. Nitisinone inhibits 4-Hydroxyphenylpyruvate dioxygenase, an enzyme which converts tyrosine to homogentisic acid resulting in the blockage of HGA accumulation. This treatment has shown 95% reduction in the plasma and urinary HGA. Other than this, Gas Chromatography Test is used by the doctors to find traces of homogentisic acid in the urine.

Alkaptonria is a rare genetic disorder following an autosomal recessive pattern wherein both the genes in each cell undergo mutation. Hence people having a genetic history of HGD gene mutation are prone to this disease which basically implies that both the parents must have HGD genes in order for the child to inherit the condition. If the individual shows symptoms like discoloration of urine, pigmentation in the ear cartilage, pain in the joins areas and spine, it is important to consult the doctor.

After diagnosis through urine test infants and young children are recommended vitamin C drugs. They have antioxidant properties that help to slow down the process of homogentisic acid accumulation. Nitisinone is used to check the formation of homogentisic acid which helps in reducing urinary homogentisate excretion. The person suffering from Alkaptonuria, is normally prescribed a heavy dose of ascorbic acid or vitamin C so that the process of HGD accumulation in your body slows down, although excessive use of vitamin C may not prove to be effective in the treatment. The person may also be recommended a low-protein diet. In order to avoid complications like arthritis, heart ailment and kidney stones, anti-inflammatory drugs or narcotics are prescribed for muscle and joint pains. Nitisinone inhibits 4-Hydroxyphenylpyruvate dioxygenase, an enzyme which converts tyrosine to homogentisic acid resulting in the blockage of HGA accumulation.

Alkaptonria is a rare genetic disorder following an autosomal recessive pattern wherein both the genes in each cell undergo mutation. Hence people having a genetic history of HGD gene mutation are prone to this disease which basically implies that both the parents must have HGD genes in order for the child to inherit the condition. If the individual shows symptoms like discoloration of urine, pigmentation in the ear cartilage, pain in the joins areas and spine, it is important to consult the doctor.

There are no specific restrictions to the treatment of Alkaptonuria. Anybody not showing signs and symptoms of urine discoloration and joint pain are not eligible for the treatment.

Alkaptonuria certainly bears a few side effects:

Arthritis- due to the accumulation of homogentisic acid in the cartilage, about 50% adults suffer from arthritis after the age of 30. They experience pain in the knee, spine and joints which require a replacement surgery later in life; Breathing- as the homogentisic acid builds up in the cartilage of larynx, trachea and bronchi, the tissues become weak and fragile resulting in breathing trouble; Heart- homogentisic acid often build up on the heart valves posing the threat of coronary artery disease, and ultimately lead to heart attack in later life; Early-onset osteoarthritis- during 20s and early 30s, people may encounter lower back pain or chronic stiffness, more commonly known as early-onset osteoarthritis.

The post treatment guidelines include certain measures as following proper medication and dietary plan in order to avoid urine infection, being physically active in order to avoid joint pain and muscle flex. The patient However, since it is a genetic disorder and depends much upon the parent’s HDG cells, the precautionary measures may not prove to be helpful.

Although recovering from alkaptonuria does not take much time if the prescribed medication and post treatment guidelines are followed, it may lead to arthritis in the long run.

The cost of treatment for alkaptonuria roughly ranges between Rs.500- Rs. 1000, and is easily affordable.

Alkaptonuria is a rare disease resulting from deficiency of homogentisic dioxygenase enzyme which causes homogentisic acid to build up in your body. This type of condition is noticed even among infants since it is a genetic disorder. Whether the treatment of alkaptonuria is permanent or not, is not known. But once diagnosed, the condition can be treated well with the help of medicine and proper diet plan.