Article

Identification of ochronosis, its inhibition by nitisinone, and the use of surgical and chemical interventions in murine models of alkaptonuria

2015-01-01

Abstract excerpt

Alkaptonuria (AKU) is an ultra rare autosomal recessive disorder resulting from a deficiency of the homogentisate 1,2-dioxygenase (Hgd) enzyme and is characterized by accumulation of homogentisic acid (HGA) in plasma. The disorder has three distinct stages of disease beginning with the excretion of large quantities of HGA in the urine, followed by deposition of HGA as a polymerized pigment in collagenous tissues p...

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Literature Corpus work: 1df13318-b41b-532d-bf17-f749b8d60ce2
DOI: 10.17638/02006679

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