From darkening urine to early diagnosis of alkaptonuria

Early detection of alkaptonuria.

Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. This leads to the characteristic features like darkening of urine, ochronosis and arthropathy. Darkening of urine is one of the first symptoms noticed by the parents of the child suffering from this disorder. Ochronosis is seen in various organs like eyes, skin, tendons and joints. A case of ...

Alkaptonuria: a disease with dark brown urine.

Alkaptonuria: early detection.

The importance of identifying this anomaly is that it is associated with other congenital malformations in over 20% of cases, most commonly being associated with cardiovascular anomalies and congenital dislocation of hip. Of the 44 infants with this syndrome, Pape and Pickering found 27 to have major anomaly of skeletal, genitourinary, respiratory and cardiovascular systems. The disorder most c...

Diagnosis of secondary amyloidosis in alkaptonuria

BACKGROUND Alkaptonuria (AKU) is an inborn error of catabolism due to a deficient activity of homogentisate 1,2-dioxygenase. Patients suffer from a severe arthropathy, cardiovascular and kidney disease but other organs are affected, too. We found secondary amyloidosis as a life-threatening complication in AKU, thus opening new perspectives for its treatment. We proved that methotrexate and anti...

from linguistics to literature: a linguistic approach to the study of linguistic deviations in the turkish divan of shahriar

chapter i provides an overview of structural linguistics and touches upon the saussurean dichotomies with the final goal of exploring their relevance to the stylistic studies of literature. to provide evidence for the singificance of the study, chapter ii deals with the controversial issue of linguistics and literature, and presents opposing views which, at the same time, have been central to t...