Abstract
Alkaptonuria is a rare inborn disease of error in metabolism with autosomal recessive inheritance. This occurs due to mutation of homogentisate 1, 2-dioxygenase which leads to deposition of homogentisic acid in connective tissues resulting in ochronosis. A case report of 56 year old male patient referred to out- patient department for Rheumatological evaluation with complaints of pain and stiffness in the lower back, hip and knee joint for the past 20 years and loss of weight. The patient had brownish black ocular pigmentation. Radiographs of thoracolumbar spine showed intervertebral disc calcication. Based on the clinical and Xray ndings the presumptive diagnosis of Alkaptonuria was made. There is no specic treatment for Alkaptonuria, Vitamin C in the dose of 1g/day is recommended for older children and adults as it hinders the accumulation and deposition of homogentisic acid. Management is mainly advice on low protein diet and this will reduce tyrosine and phenyalanine in the body. Physiotherapy will help to reduce weight and improve posture.
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