Literature DB >> 18846913

Alkaptonuria and intramedullary calcification.

S Raina1, D M Mahesh, S S Kaushal, D Gupta, D S Dhiman, A Negi, S Sharma.   

Abstract

Alkaptonuria is a rare disorder of metabolism caused by deficiency of homogentisic acid oxidase enzyme and characterized by triad of homogentisic aciduria (dark urine), relentlessly progressive arthritis and ochronosis. We have documented a case with typical features of alkaptonuria along with intramedullary calcification which has not been reported in the literature before.

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Year:  2008        PMID： 18846913

Source DB:  PubMed          Journal:  J Assoc Physicians India        ISSN： 0004-5772


  3 in total

1.  Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion.

Authors:  Sudhesna Mohapatra; Teresa Biswas; Saswati Das; Alpana Saxena
Journal:  Indian J Clin Biochem       Date:  2013-05-25

2.  Alkaptonuria is a novel human secondary amyloidogenic disease.

Authors:  Lia Millucci; Adriano Spreafico; Laura Tinti; Daniela Braconi; Lorenzo Ghezzi; Eugenio Paccagnini; Giulia Bernardini; Loredana Amato; Marcella Laschi; Enrico Selvi; Mauro Galeazzi; Alessandro Mannoni; Maurizio Benucci; Pietro Lupetti; Federico Chellini; Maurizio Orlandini; Annalisa Santucci
Journal:  Biochim Biophys Acta       Date:  2012-07-28

3.  Extensive prostatic calculi in alkaptonuria: An unusual manifestation of rare disease.

Authors:  Gaurav Sali; Appu Thomas; Ginil Kumar; Balagopalan Nair; Kalvampara Sanjeevan; Georgie Mathew; Kannan Nair
Journal:  Asian J Urol       Date:  2015-06-25
  3 in total

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