Dharmambal Chidambaram1, Somasundaram Anavarathan2
INTRODUCTION
Alkaptonuria is a rare metabolic autosomal recessive disorder due to Homogentisic acid oxidase deficiency. There is generalized deposition of oxidized HGA in tissues mainly in fibrous and cartilaginous tissues. The disease is generally characterized by dark urine, ochronosis, and arthritis. A 50-year-old female attended the hospital with severe Joint Pain, Itching, Parasitophobia, Difficulty in hearing, Lack of clear vision and Discoloration of urine for different durations ranging from 6 months to 10 years. Alkaptonuria was suspected and accordingly detailed clinical examination and investigations were carried out. Biochemical analysis was positive for Alkaptonuria, X-ray was supportive for the diagnosis, and Histopathological examination revealed alkaptonuric pathology. The treatment was initiated with Ascorbic acid and protein restricted diet with symptomatic management and being followed up.
