WHAT IS ALKAPTONURIA? IS IT A DISEASE?

Question

WHAT IS ALKAPTONURIA? IS IT A DISEASE?

Answer 1

It is a genetic disorder. It was discovered by 'Garrod' in 1909. It is a disease of human beings characteristics by brown or black colour of exposed urine.The disease was caused by the inheritance of a pair of recessive genes. When a person suffer in this disease, than 'alkapton' or 'homogentisic' acid is produced in his body due to metabolism of amino acids phenylalanine and tyrosine.

       Also if a person suffering from this disease than the enzyme alkapton oxidase is become lacking in there body therefore, alkapton accumulate in there body as it is unable to converted in to CO2 and H2O due to lacking of enzyme.

       When the alkapton excreted in urine it get oxidised to form a brown black product. If this brown black product accumulate in the body in connective tissue and cartilage, than it changes eye white, nose and ear to grey or blue black. If it is contineously deposited in the connective tissue than a type of arthritis develops, shoulder, hip and spines are effected.It may also get deposited in arteries and heart valve  causing malfuncting of heart.

Answer 2

Alkaptonuria (black urine disease or alcaptonuria) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive condition that is due to a defect in the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5), which participates in the degradation of tyrosine. As a result, a toxic tyrosine byproduct called homogentisic acid (or alkapton) accumulates in the blood, and is excreted in urine in large amounts(hence -uria). Excessive homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves as well as precipitating as kidney stones. Treatment with nitisinone, which suppresses homogentisic acid production, is being studied. Alkaptonuria is more common in Slovakia and the Dominican Republic than in other countries.

Answer 3

yes it is a type of disease but I donot know what r its symptom, better u enquired it from a good doctor.

Answer 4

it IS a disease. Alkaptonuria itself is asymptomatic, but the sclera of the eyes may be pigmented (often only at a later age) and the skin is darkened in sun-exposed areas as well as around sweat glands; sweat may be coloured brown. Urine may turn brown on standing, especially when left for a period of time (which may alert parents of children using diapers).[citation needed] Kidney stones and stone formation in the prostate (in men) are common, and may occur in more than a quarter of cases.

The main symptoms of alkaptonuria are due to the accumulation of homogentisic acid in tissues. In the joints this leads to cartilage damage, specifically in the spine and leading to low back pain at a young age in most cases, but also of the hip and shoulder. Joint replacement surgery (hip and shoulder) is often necessary at a relatively young age.

Valvular heart disease, mainly calcification and regurgitation of the aortic and mitral valves, may occur, and in severe and progressive cases valve replacement may be necessary. Coronary artery disease may be accelerated in alkaptonuria.

A distinctive characteristic of alkaptonuria is that ear wax exposed to air turns red or black (depending on diet) after several hours because of the accumulation of homogentisic acid

Answer 5

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.This condition is rare, affecting 1 in 250,000 to 1 million people worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic.Mutations in the HGD gene cause alkaptonuria.

The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process. As a result, a substance called homogentisic acid, which is produced as phenylalanine and tyrosine are broken down, accumulates in the body. Excess homogentisic acid and related compounds are deposited in connective tissues, which causes cartilage and skin to darken. Over time, a buildup of this substance in the joints leads to arthritis. Homogentisic acid is also excreted in urine, making the urine turn dark when exposed to air. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Answer 6

it is a genetical disorder disease causing yellow urine.