Abstract
Alkaptonuria is a rare inborn error of metabolism, caused due to the deficiency of the enzyme homogentisic acid oxidase. The manifestations of this disease are initially non specific, hence the condition is often under diagnosed as the patients present at later stages with associated complications. Although the treatment of alkaptonuria is mainly supportive, the diagnosis and reporting of this rare condition is necessary as it avoids subjecting the patients to unnecessary investigations and interventions. We report a case of a thirty five year old lady, who presented with severe low back pain.Xray showed features of disc prolapse. On table intraoperative findings showed blackish discolored disc material during discectomy. After doing simple ancillary tests, and correlating with other clinical features, the lady was diagnosed as a case of Alkaptonuria.We report this case as not only is the metabolic condition rare, but also to highlight the importance of simple urinary tests which are of great help in diagnosing such conditions,even in this era of automation considering the cost effectiveness in rural population like ours. DOI: 10.21276/APALM.1323
Highlights
Alkaptonuria is a rare, inborn error of metabolism. It is an autosomal recessive condition caused due to the deficiency of the enzyme homogentisic acid oxidase. It was one of the four inborn errors of metabolism described by Garrod in his croonian lectures of 1908
A thirty five year old female was admitted with history of severe low back pain and stiffness since the past two months, which aggravated since a week
The deficiency of homogentisic acid oxidase leads to the accumulation of a melanin like granular pigment, which has affinity for cartilage, and resembles ochre, the name oochronosis. [3]
Summary
Alkaptonuria is a rare, inborn error of metabolism It is an autosomal recessive condition caused due to the deficiency of the enzyme homogentisic acid oxidase. General examination showed brown to black pigmentation of the ear cartilage and the anti helix. Intra operative findings showed brown to blackish pigmentation of the disc material.The scooped disc material was sent for histopathological examination.[FIG2A]. The patient was diagnosed as a case of Alkaptunuria based on the clinical and other investigation findings. She was given required doses of vitamin C, and advised dietary modification to avoid phenylalanine and tyrosine rich foods. Annals of Pathology and Laboratory Medicine, Vol 4, Issue 5, September-October, 2017
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