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Year : 2014  |  Volume : 3  |  Issue : 2  |  Page : 125-129

Alkaptonuria with review of literature

Department of Radiology, Government General Hospital, Bhudhawarapeta, Kurnool, Andhra Pradesh, India

Correspondence Address:
Onteddu Joji Reddy
Department of Radiology, Government General Hospital, Bhudhawarapeta, Kurnool-518 003, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2277-8632.134884

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Alkaptonuria, a metabolic disorder characterized by a triad of homogentisic aciduria, arthritis, and ochronosis is one of the first conditions in the group of inborn errors of metabolism proposed to have Mendelian recessive inheritance. It is due to the deficiency of the enzyme homogentisic acid (HGA) oxidase which catalyzes the conversion of HGA to maleylacetoacetic acid in the catabolism of tyrosine. HGA thus accumulates in cells and body fluids and its oxidized polymers bind to collagen, leading to progressive deposition of grey to bluish black pigment resulting in degenerative changes in cartilage, intervertebral disc, and other connective tissues, leading to arthritis which is the only disabling effect in an affected older individual. However, the diagnosis can be made in neonates when blackish stain is noticed in an unwashed diaper. In this report we describe a 46-year-old male patient who presented with typical features of alkaptonuria.

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