Alkaptonuria: causes, symptoms and treatment & bull; hello healthy

Definition

What is alchaptonuria?

Alkaptonuria is a rare inherited condition that occurs when the body is unable to produce enough of a so-called enzyme homogentisicdioxygenase (HGD). This enzyme is supposed to function to break down a toxic substance called homogenic acid. Due to the absence of this hormone, it results in the buildup of homogenic acid in the body.

The increase in homogenic acid causes the bones and cartilage to change color and become brittle. This usually causes osteoarthritis (calcification of the joints), especially in the spine and large joints.

People with alchaptonuria also produce urine (urine) that turns brown or black when exposed to air.

How common is alchaptonuria?

Alkaptonuria is a rare disease. According to National Organization of Rare Disorders (NORD), the exact number of cases of this disease is not known, but is estimated to occur in one in every 250,000 people. However, this rare condition is more common in certain regions of European countries, such as Slovakia and Germany as well as in the Caribbean island region, to be precise the Dominican Republic.

This condition can be overcome by reducing your risk factors. Talk to your doctor for more information.

Signs and Symptoms

What are the signs and symptoms of alchaptonuria?

The signs and symptoms of alchaptonuria become more pronounced as you get older. The most obvious symptom of alchaptonuria is urine that turns dark brown or black when exposed to air. By the time you reach your 20s or 30s, you may notice signs of osteoarthritis early on.

Other common signs and symptoms of this rare condition include:

• Freckles on the sclera (white) of the eyes
• Thickened, darkened cartilage in the ear
• The skin changes color to blue spots, especially around the sweat glands
• Sweat or dark colored sweat stains
• Earwax is black
• Kidney stones and prostate stones
• Arthritis or joint pain (especially in the waist and knee joints).

Alkaptonuria can sometimes cause heart problems. The buildup of homogenic acid makes the heart valves harden, causing disruption of the aortic and mitral valves.

When should I see a doctor?

Early diagnosis and treatment can prevent worsening of other medical conditions and emergencies, so consult your doctor as soon as possible to prevent this serious condition.

If you have any questions, consult your doctor. Everyone's body reacts differently. It is always best to discuss what is best for your situation with your doctor.

Cause

What causes alchaptonuria?

Alkaptonuria is caused by mutations (abnormal changes) in the homogentisate 1,2-dioxygenase (HGD) gene. This is an autosomal recessive condition, meaning that you can get this rare condition if both parents have a carrier gene (not just a wrong sta).

Triggers

What puts a person at risk for this condition?

You can have a higher risk of developing this rare condition if:

• Have a family history. Since alkaptonuria is inherited, the only known risk factor is family history related to this disorder. Men and women have the same potential for this condition. The incidence rate is estimated to be about one in 250,000 people worldwide. It is difficult to estimate the number of cases of alchaptonuria with certainty because screening newborns for alchaptonuria is not widely applied. Moreover, some people who have the mutation that causes this disorder show no symptoms.
• Live in a certain area. Although it is a rare disorder, cases of alkaptonuria are more common in some populations. This disease is more common in certain regions of Slovakia. There about one in 19,000 people are diagnosed with alchaptonuria. This condition is also more common in the Dominican Republic, but its incidence is unknown.

Diagnosis and Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor for more information.

How is alchaptonuria diagnosed?

In this case, your doctor may suspect that you have this rare congenital disease if your urine turns dark brown when exposed to air. Your doctor can also test you for this condition if you experience early symptoms of osteoarthritis.

Your doctor can use a test called a chromatography to check for traces of homogenic acid in your urine. He can also use DNA testing to check for HGD mutated genes.

Family history is very useful in making the diagnosis of alchaptonuria. However, many people do not know that they carry this gene. Your parents may be carriers or "hosts" of the gene without realizing it.

What are the treatments for alchaptonuria?

There is actually no specific treatment for this rare condition. However, there are a number of ways that may help you relieve the symptoms.

You must eat a low protein diet. Doctors may recommend high doses of ascorbic acid (also called vitamin C) to slow the buildup of homogenic acid in cartilage. However, NORD warns that long-term use of vitamin C has proven ineffective at treating this condition.

Other treatments for alchaptonuria usually focus on treating complications that may occur, such as:

• Arthritis
• Heart disease
• Kidney stones

Prevention

What can I do to prevent and treat alchaptonuria?

Some tips that can help you or your child detect this condition early and get the right treatment, include:

• Observation of dark urine in infants or young children should be immediately evaluated
• Counseling with a geneticist can be useful for those with a family history of alchaptonuria
• Prenatal tests may be considered to detect this condition in the uterus or before you try to get pregnant

For people who have been diagnosed with this rare condition, they should follow a doctor's advice and regular monitoring can help detect and treat symptoms early.

Some of the complications that may occur include arthritis, heart disease, and kidney or prostate stones, mainly caused by excess acid deposition. Maintaining a health routine with a balanced diet and limiting protein intake can be beneficial. Exercise according to the advice of your doctor can also be done.

If you have any questions, consult your doctor to understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.