Alkaptonuria is a condition , in which , urine of a person turns drab brownish or blackish in color when it gets exposed to breeze . It is a genetic experimental condition and a build of disorder under the umbrella of inborn errors ofmetabolism .
Another characteristic feature of speech of this disorder is the construction up of a dark paint in the connective tissue of the soul . tissue paper like the bone , cartilage andskinare affect in this . It make profane black pigmentation in these parts and is usually see occurring after 30 years of age .
Causes Of Alkaptonuria
Alkaptonuria is agenetic disorder , because of mar in a factor responsible for breakdown of sure section of protein . The gene bring up HGD , keep in line and provides information to produce an enzyme call homogentisate oxidase . This enzyme performs the function of breaking down the aminic acids namely phenylalanine andtyrosinethat assist to build up proteins . In this shape , there occur some genetic changes or sport in this gene , which disturbs its normal performance .
Disease Mechanism Of Alkaptonuria
As a result of transmissible mutations , the abnormal operation or improper rift down of these amino acids conduct to excess formation of a marrow address homogentisic acid , which further accumulates in the body . This substance or acid along with its related compounds gets deposited in tissues like skin and cartilage , which gives the tissues a characteristic bluish black pigmentation and the process calledochronosis . The excess acid is also excreted in the urine . When pee containing this acid is let on to air , the acid comes in impinging with the air and turns brownish inglorious giving the water its distinctive color .
The process of onchronosis , which get pigmentation and deposition in tissue , makes the os and the gristle more susceptible to wear and tear of the joints . This leads to degradation of the cartilage and terrible movements of the reefer . Over a period of time , the degraded cartilage causes the pearl to rub against each other and get more friction and pain in the neck . It can further lead to painfulosteoarthritis . Additionally , this excess homogentisic acid can get deposited in the gristle and tissues of the line of descent vessels and valve . This can affect the lineage flow through the blood vessels and also increases the risk ofheart diseasesand related complications .
Symptoms Of Alkaptonuria
Clinical Features:
Alkaptonuria is an inherit condition , present since birth . However , during early childhood only the symptom of contraband urine may be noted . In infants , the diaper with urine , when expose to air , may appear dark . If allowed to remain for few hour it may even flex contraband . Sometimes , this distinctive feature may not be easily evident in all patient .
The other symptom may get by maturity , which could be possibly because the spare accumulation of homogentisic pane in clappers and gristle takes some time , which then shows signboard in the later age . These symptoms let in :
Diagnosis Of Alkaptonuria
The condition can be confirmed by performing piss analysis . The urine test is done using gun chromatography , a specialized test . The pee of person with this precondition will work black when agents like ferric chloride are add to it .
The complaints of dark weewee may not be present in all , hence for suspected cases , a confirmatory test observe the mien of the enzyme homogentisate may be required .
Treatment For Alkaptonuria
Treatment aim at reducing the pigment deposit , which is creditworthy for further complication . Vitamin C , with its antioxidant nature may play a role in delaying the process of homogentisic acid formation or may be helpful in reduce its dethronement in the tissue and thus delay the arthritic process . eminent Zen ofvitamin C , around 1 GB / d may be rede for adult and older children .
While the involvement of dietary limitation remain unclear , it may be helpful to restrict the intake of proteins as the amino acids are not in good order broken down . A mild dietary protein restriction to thin the intake of phenylalanine and tyrosine , may be considered , especially in children .
Surgical intercession may be expect in senior patients for optical fusion of lumbar discs . Joint replacement and valve replacement surgeries may be consider in some patient as appropriate .
Prevention of Alkaptonuria
observance of dark colored pee in baby or young children should be right away evaluated . hereditary counsel for recognize eccentric and those with a family history can help . antenatal trial run to notice the condition in the uterus may be considered .
