Cover Image




Alkaptonuria (AKU) is an autosomal recessive disorder of tyrosine metabolism due to deficiency of the enzyme homogentisic acid dioxygenase. The description of alkaptonuria by Garrod in 1902 led to the concept of a single enzyme deficiency resulting in lifelong disease. The elevated levels of homogentisic acid (HGA) polymerises and gets de posited in connective tissues leading on to ochronosis. The usual presentation is with degenerative joint disease and   hyperpigmentation of skin. We report a case of Alkaptonuria with Chronic kidney disease leading onto Secondary Hypertension and Spontaneous tendon ruptures in a young female for its rarity.


Full Text:



Fernandez – Canon JM, Granadino B: the Molecular basis of alkaptonuria. Nat Genet. 1996; 14(1): 19.

Zatkova A: An update of molecular genetics of Alkaptonuria: J inherit Metab disease .2011:34(6): 1127

Phornphutkul C, Introne WJ: Natural history of alkaptonuria: N Engl J Med .2002; 347(26): 2111

Pettit SJ, Fisher M, Gallagher JA: Cardiovascular manifestations of alkaptonuria: J Inherit Metab Dis .2011; 34(6): 1177

Venkataseshan VS, et al: alkaptonuria and renal failure: Mod Pathol .1992 Jul: 5 (4): 464-71

Introne WJ, et al. exacerbation of ochronosis of alkaptoniria due to renal insufficiency .Mol Genet Metab.2002 sep –oct; 77(1-2): 136-42

Scriver CR, Beaudet AL, Sly W, Valle D (Eds): The metabolic and molecular basis of inherited disease. McGraw-Hill, Newyork 1995, 7th edition, p.1371.

Wolff JA, Barshop B: effects of ascorbic acid in alkaptonuria : Pediatr Res .1989 :26(2); 140 9) Suwannarat P, O’Brien K: Use of Nitisisone in patients with alkaptonuria. Metabolism.2005; 54(6): 719

Introne WJ, Perry MB. A 3-Year randomized therapeutic trial of

nitisinone in alkaptonuria – Mol Genet Metab.2011 Aug; 103 (4):307-14. E pub 2011 May 6.


  • There are currently no refbacks.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An initiative of The Tamil Nadu Dr M.G.R. Medical University