Alkaptonuria

Description:

The alkaptonuria (alcaptonuria) was described for the first time by R. Virchow. An alkaptonuria - the rare inborn general disease connected with disturbance of amino-acid exchange and inherited on recessive type.

Alkaptonuria symptoms:

The alkaptonuria develops at early children's age and proceeds during all life. Skin manifestations are characterized by development of the expressed pigmentation over a malar part of the face, in axillary hollows and on genitalias. Sometimes pigmentation accepts widespread character. Deposits of a pigment can be found also in a sclera. Patients note the general weakness. Arthritises, osteitises develop. Urine when standing on air darkens; nephrolithiasis. The hoarse voice, a dysphagy are observed.

Alkaptonuria reasons:

At the same time exchange of tyrosine reaches only a stage of homogentistic acid which because of an inborn lack of enzyme - an acid oxidase, splitting its benzene kernel, further transformation is not exposed and postponed in skin, bones, cartilages, a sclera and in other bodies and is allocated with urine. As a result of oxidation homogentistic acid turns into a melaninopodobny pigment of unknown structure. Accumulation of acid and adjournment of a pigment in cartilages and other connective tissue structures define development of a symptom complex known as an ochronosis.

Treatment of the Alkaptonuria:

Treatment of an alkaptonuria symptomatic. A diet with low protein content.