Alkaptonuria
Coutii Healthy - Alkaptonuria is a rare disorder experienced by a person at the time of homogentisat acid buildup (homogentisic acid) in the body. As a result, members of the body or part of the urine looks dark-colored or black over time giving rise to a number of health problems.
Alkaptonuria is inherited genetic disorders of the elderly. The symptoms of this disease is often overlooked in the beginning and just look after the sufferer reaches the age of late 20 's or early 30 's. This happens because homogentisat acid buildup is happening slowly. The result of the buildup of such substances, cartilage, tendons, bones, nails, or the ear becomes dark or colored blackish. Alkaptonuria sufferer still able to live normally, although the quality of her life can be disrupted due to the problem of pain in the joints or disruption on the organ of the heart.
Symptoms Of Alkaptonuria
Symptoms of alkaptonuria can emerge since infancy, although often neglected because these symptoms are initially not visible clearly. At the time of the baby, the early symptoms are usually marked with a black stain on a baby's diaper. The symptoms look increasingly evident over the increase of the age, especially in the eyes, ears, nails or skin, and other organs. These symptoms include:
The body's inability to produce the enzyme homogentisate oxidase caused by the presence of the enzyme-producing gene mutations in the homogentisate genes, i.e. 1.2-dioxygenase (HGD). These abnormalities were revealed in an autosomal recessive, meaning that the gene mutation should be derived from both parents a new cause this disorder, not just one.
Diagnosis Of Alkaptonuria
Diagnosis of alkaptonuria it can be done if a person is suspected of having symptoms of the disease, such as urine turbid Brown or black if exposed to air. In order to verify it, the doctor can perform the examination of urine, especially to see the presence of homogentisat acid in the urine. In addition, it is also done DNA testing to see if the gene mutation occurs HGD in the body.
Alkaptonuria is inherited genetic disorders of the elderly. The symptoms of this disease is often overlooked in the beginning and just look after the sufferer reaches the age of late 20 's or early 30 's. This happens because homogentisat acid buildup is happening slowly. The result of the buildup of such substances, cartilage, tendons, bones, nails, or the ear becomes dark or colored blackish. Alkaptonuria sufferer still able to live normally, although the quality of her life can be disrupted due to the problem of pain in the joints or disruption on the organ of the heart.
Symptoms Of Alkaptonuria
Symptoms of alkaptonuria can emerge since infancy, although often neglected because these symptoms are initially not visible clearly. At the time of the baby, the early symptoms are usually marked with a black stain on a baby's diaper. The symptoms look increasingly evident over the increase of the age, especially in the eyes, ears, nails or skin, and other organs. These symptoms include:
- Symptoms in the nail and the skin, in the form of sweat, nail discoloration changed to blue, and the color of the skin which turns primarily on the forehead, cheeks, armpits, and the genital area.
- Symptoms in the eye, in the form of colored stain Brown or gray on the white part of the eye.
- Symptoms in the ear, ear cartilage becomes blackish blue (ochronosis), as well as the Earwax becomes black or reddish-brown.
- Early symptoms of osteoarthritis, like pain or stiffness in the joints and spine, shoulder, hip, or knee. These symptoms generally begin to appear since the age of 20 or 30 years.
- Other symptoms, among them short of breath or difficult breathing, blood vessels become stiff and weakened, valvular heart disease and the formation of kidney stones, prostate, or bladder.
- Causes and risk factors of Alkaptonuria
- Under normal circumstances, the body will break down the protein-forming two compounds (amino acids), namely tyrosine and fenilalanin through a series of chemical reactions. But in condition alkaptonuria, the body can not produce the enzyme homogentisate oxidase in enough quantities. The enzymes needed to break down tyrosine metabolism results in the form of homogentisat acid. As a result, homogentisat acid accumulate and then be a black or dark-coloured pigment within the body, while others are removed through urine.
The body's inability to produce the enzyme homogentisate oxidase caused by the presence of the enzyme-producing gene mutations in the homogentisate genes, i.e. 1.2-dioxygenase (HGD). These abnormalities were revealed in an autosomal recessive, meaning that the gene mutation should be derived from both parents a new cause this disorder, not just one.
Diagnosis Of Alkaptonuria
Diagnosis of alkaptonuria it can be done if a person is suspected of having symptoms of the disease, such as urine turbid Brown or black if exposed to air. In order to verify it, the doctor can perform the examination of urine, especially to see the presence of homogentisat acid in the urine. In addition, it is also done DNA testing to see if the gene mutation occurs HGD in the body.
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