Hospital sources said the 57 year-old male patient came to BGS Global Hospitals as he was unable to walk due to pain in the left leg for the past three to four years and also complained of pain in the lower back.The movements of the back were restricted.
He was a known diabetic and had high blood pressure.
Radiological examination revealed that he had a rare genetic disorder Alkaptonuria. There was complete destruction of cartilages and bones of the left hip joint. There was marked narrowing of disc space and calcium deposits in the spinal column between all vertebrae.
Dr. N. K. Venkataramana, Vice-Chairman, BGS Global Hospitals said "Alkaptonuria is an autosomal recessive condition. It arises in people who have inherited two mutant genes (abnormal HGD genes) one from each parent. The worldwide incidence of alkaptonuria is 1 in 2,50,000. In Slovakia the disease occurs in 1:19,000 people and it is also reported frequently in the Dominican Republic. There are fewer cases reported in India."
Dr G Mallinath, Orthopaedic and Joint Replacement Surgeon, BGS Global Hospitals said a person having this disorder is unable to process amino acids, phenylalanine and 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. As large quantities are deposited in the connective tissues in the body they turn black.”