Alkaptonuria

Alkaptonuria's disease overview

Alcaptonuria (Alkaptonuria) is a rare genetic disease, also known as "dark urine disease" due to its typical colors of urine and connective tissue of patients. >

People with urinary alcapton have a homogentisate enzyme with 1,2-dixygenase, leading to an abnormality in the metabolism of phenylalanine amino acids, resulting in a progressive accumulation of hom toolentisate acid. This is a toxic substance, collected mainly in the skin and connective tissue of the body. In particular, it is present in articular cartilage and ruin it slowly.

Diseases causing joint injury, congestion of heart valve, kidney stones and liver problems. It is manifested through the oxidation of homogentisate acid, leaving brown pigments on the eyeball and on the skin. Moreover, when the body eliminates this acid through the urine, the urine will be dark brown.

Alcaptonuria is a genetic disease that can be transmitted to the next generation through diving gene. It only manifests itself if both parents are healthy but a person who carries the germs. In this case, each pregnancy has a probability of 25%, the child is sick.

The diagnosis of the urinary alcapton through urine tests, but although it has a characteristic dark color, many patients do not realize they get sick until adulthood. About 40 years old, typical complications of the disease began to appear. There is currently no definitive therapy for the ureter. The current treatment includes anti -inflammatory and anti -inflammatory drugs, accompanied by a diet rich in vitamin C because vitamin C slowed down the accumulation of brown pigment in cartilage.So what is What is the urinary alcapton disease and the cause, symptoms, treatment?

Causes of Alkaptonuria's disease

Mutations in HGD gene (homogentisato dioxygenase) cause alcaptonur disease. The HGD gene provides instructions to create an enzyme called Homogentisate Oxyase. This enzyme helps to break down phenylalanine and tyrosine amino acids, which are important components that help make protein. The mutation in HGD gene reduces the role of enzymes in this process. As a result, a substance called homogentisic acid, produced in the form of phenylalanine and tyrosine is broken, accumulated in the body. Excess homogentisic acid and related compounds deposit in connective tissues, causing dark cartilage and skin. Over time, the accumulation of this substance in the joint leads to arthritis. Homogentisic acid is also excreted in the urine, causing the urine to turn dark when exposed to the air.

Symptoms of Alkaptonuria's disease

In some cases, Alcaptonuria was found to have entered middle age (40 years old onwards) and although many people have no symptoms of dark urine, there are certain symptoms also have appears like:

progressive arthritis, especially in the spine.

Dark skin, especially in the sweat glands and in places in contact with the sun

Brown sweat

Dark ear cartilage.

Black spots on the Mac (SCLERA) and cornea.

Prostate stones and prostatitis.

Kidney stones

The accumulation of homogentisic acid in tissues and cartilage leads to a number of serious symptoms and health problems. It leads to cartilage damage in different parts of the body including the spine, shoulders and hips leading to back pain in young people. Dark urine disease can cause mild to moderate mental retardation in some rare cases.

In addition, this disease can lead to different valve problems such as reflux and calculating the aortic valve and mitral valve, accelerating the development of coronary artery disease in patients.

Transmission route of Alkaptonuria's diseaseAlkaptonuria

The urinary alcapton disease is a genetic disease, not infectious, so it is unable to transmit from patients to healthy people.

People at risk for Alkaptonuria's disease

families with relatives have suffered from alcaptonur disease.

Prevention of Alkaptonuria's disease

Currently, no precautions have to help prevent the development of alcapton urine in humans . This is due to the exact cause behind the unknown gene mutation. Research is being conducted by experts to determine whether it can stop it. Couples with a family history of Alcapton Urine should consider genetic advice and gene assessment to better understand the risk of childbirth with alcapton.

Diagnostic measures for Alkaptonuria's disease

Doctors perform physical examination thoroughly and ask patients about the symptoms of the disease. The diagnostic tests used for this purpose include thin layer chromatography and paper chromatography. Neither urine and plasma are used for diagnosis.

Urine and blood tests are performed to detect any signs of homogentisic acid in patient urine. Homogentisic acid is absolutely not in the urine and plasma if the patient does not have an alcapton. However, people with this disorder have an average amount of urine of 3.12 mmol / mmol creatinine. Their average plasma level is 6.6 micrograms / ml.

Sometimes, Ferric Chloride is added to the urine sample to check whether it turns black after contact with the compound. This test is very useful for diagnosis. Other diagnostic techniques such as X-rays may also be helpful to detect spinal diseases and other abnormalities. Neonatal screening is usually not done for the urinary alcapton.

Alkaptonuria's disease treatments

Currently there is no treatment for the basic causes of this genetic disease. Patients are often prescribed with high doses of vitamin C (ascorbic acid) because it has been shown to be useful to reduce the accumulation of homogentisic acid in cartilage, in addition to vitamin C can also reduce the progression of arthritis.

Some patients may need more physical therapy to maintain the flexibility and strength of muscles. Physiotherapy is also necessary to control long -term joint pain caused by the urinary alcapton. The advice for patients is to avoid stress and pressure on the spine and the main joints. For this reason, the patient Alcaptonur should not participate in strong, highly opposing sports. When serious joint damage is required to replace joints while kidney stones and prostate are treated with surgery to remove stones.

Tyrosine and phenylalanine diets also help control this disorder. However, these restrictions have been proven to be more effective in children than adult patients.

Nitisinone treatment is another feasible treatment option. Nitisinone inhibits the activity of 4-hydroxyphenylpyruvate dioxygenase, an enzyme responsible for producing homogentisic acid from 4-hydroxyphenylyruvic acid. This way will reduce the amount of homogentisic acid in the patient's body. However, the usefulness of this treatment is still being considered carefully because it leads to different side effects.

Current research shows that gene therapy can be a useful treatment for alcaptonuria.

See also:

Where is the kidney and how?

What is the volume of urine? Meaning of each parameter in urine test

Why urine is sediment?

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