Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

  title={Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.},
  author={Thierry Vilboux and Michael Kayser and Wendy Jewell Introne and Pim Suwannarat and Isa M Bernardini and Roxanne Fischer and Kevin O'brien and Robert Kleta and Marjan Huizing and William A Gahl},
  journal={Human mutation},
  volume={30 12},
Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder, characterized by accumulation of homogentisic acid, leading to darkened urine, pigmentation of connective tissue (ochronosis), joint and spine arthritis, and destruction of cardiac valves. AKU is due to mutations in the homogentisate dioxygenase gene (HGD) that converts homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway. Here we report a comprehensive mutation analysis of 93 patients enrolled in our… CONTINUE READING


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