Alkaptonuria disease

Alkaptonuria is a health condition that is derived and is quite rare. Alcaptonuria can occur when the body does not produce an enzyme known as homogenization dioxygenase (HGD) in adequate quantities.

This enzyme is used to describe a toxic substance called homogenization acid. When the body does not produce adequate amounts of HGD, homogenization acid can have a buildup in the body.

The buildup of homogenization acid can cause bones and cartilage to experience discoloration and become brittle. This condition can result in osteoarthritis, especially on the spine and large joints. Individuals with Alcaptonuria may also experience changes in urine color to dark brown or black when exposed to air.

Causes of Alkaptonuria

Alkaptonuria is caused by a mutation in the homogenized gene 1.2-dioxygenase (HGD) and is an autosomal receptive condition. This means that both parents must have the gene to bring the condition down to the child.

Alkaptonuria is one of the rare diseases. According to the National Organization of Rare Disorders (NORD) in the United States, the exact number of sufferers of the case is not yet known, but is alleged to have occurred in 1 of about 250,000 – 1,000,000 births live in the country.

Symptoms of Alkaptonuria

There is a dark stain on the baby's diaper, which can be one of the earliest signs of alkaptonuria. Also, some other signs and symptoms can occur in childhood.

Signs and symptoms can become clearer as you age. Urine may experience discoloration into dark or dark brown when exposed to air.

When it reaches the age of 20 to 30, an individual with this condition can observe the signs and symptoms of arthritis in the early years. For example, a person can experience chronic stiffness or pain in the lower back or a large joint.

Other signs and symptoms of Alkaptonuria may include:

Black spots on the sclera (the white part of the eye)
Thickening and evasion of ear cartilage
There are depictions of bluish spots on the skin, especially around the sweat glands
Sweat or sweat stains
Earwax Black
Kidney stones and prostate stones
Arthritis (especially in the pelvis and knee joints

Alkaptonuria may also cause health problems in the heart. The buildup of homogenization acid can cause heart valves to experience hardening.

This condition can inhibit the closure of the heart valve completely, which eventually leads to abnormalities in the aortic and mitral valves. In severe cases, cardiac valve replacement can be needed. The buildup also causes hardening of the blood vessels, which can increase the risk of high blood pressure.

Diagnosis of Alkaptonuria

Diagnosis of Alkaptonuria can be determined from detailed medical interviews, direct physical examinations, and specific supporting examinations when judged as needed.

The doctor can suspect that alkaptonuria when the urine color turns into dark brown or black when exposed to air. Also, an examination of Alkaptonuria can be performed when a person experiences osteoarthritis of the early eye.

The doctor can perform a test called gas chromatography to examine the presence of a small amount of homogenization acid on urine. DNA tests can also be performed to evaluate the existing HGD genes that have been mutations.

Family history can also be very helpful when determining the diagnosis of alkaptonuria. However, most people do not know if they are carriers of the gene or not.

The handling of Alkaptonuria

There is no specific treatment for alkaptonuria. People with this condition may be advised to consume a low-protein diet.

The doctor may also recommend intake of ascorbic acid, or vitamin C, with high doses, to slow the accumulation of homogenization acid on the cartilage. However, prolonged use of vitamin C, in general, does not prove effective in addressing these conditions.

Also, other treatments of alkaptonuria are aimed at the prevention and handling of possible complications, such as:

Arthritis
Heart disease
Kidney stones

For example, a doctor may prescribe anti-inflammatory or narcotic treatment for joint pain. Physical and occupational therapy can help to maintain flexibility and strength in muscles and joints.

Also, people with this condition are advised to avoid activities that can overload the joints, such as heavy lifting and contact sports work.

At a certain stage, people with Alkaptonuria may need surgery. One of the existing studies reports that half of the people with Alcaptonuria may need a replacement surgery of the shoulder, knee, or hip joint, often at ages 50 to 60 years.

Also, people with this condition can require the replacement of aortic or mitral valves, when they are no longer functioning. In some cases, surgery or other therapies can also be needed to treat chronic kidney or prostate stones.

Prevention of Alkaptonuria

Because Alkaptonuria is a genetic disease that occurs since birth, there is not yet a proven way of fully effective in avoiding the occurrence of this condition.