Alkaptonuria Research Paper

ALKAPTONURIC ARTHROPATHY:- A RARE ENTITY
Hemant Kumar†, Sagar Tyagi†, Parveen Hans†, Prof .Virinder Mohan*
Department of Radiodiagnosis, Rohilkhand Medical college,
Bareilly, (U.P.) India

ABSTRACT
Alkaptonuria is a metabolic disorder of tyrosine and phenylalanine metabolism in which there is absence of homogentisic acid oxidase whose deficiency leads to excessive accumulation of homogentisic acid in urine resulting in black color of urine on standing.[1] The disease is usually diagnosed in adults but a few cases in childhood have been noted because of black discolouration of diapers. Homogentisic acid thus accumulates in cells and body fluids and its oxidized polymers bind to collagen leading to progressive deposition of grey to bliuish black pigment which leads to degenerative changes in cartilage,

Osteoarthritis can be treated symptomatically as for other osteoarthritis, surgical intervention is seldom required. Treatment with ascorbic acid (Vit C) and dietary restrictions of food containing phenylalanine and tyrosine have proved to be successful in alleviating the symptoms.
CONCLUSION

Alkaptonuria, ochronosis, and arthritis, represents a clinical entity which has its genesis in a rare metabolic anomaly. Extensive calcification of the intervertebral discs with ankylosis of the spine are typical radiographic findings. Similar calcifications also occur in tendon sheaths, bursal sacs, and in synovial membranes. A case of this disease is recorded, in which the diagnosis of alkaptonuria was made from the radiographs and confirmed by urine examination, which turned black after it was left in open for long