Article

Phenotyping of a new conditional mouse model of alkaptonuria and investigation of nitisinone-induced tyrosinaemia

2020-01-01

Abstract excerpt

Alkaptonuria (AKU) is an ultra-rare, autosomal recessive metabolic bone disease characterised by increased urinary and circulating homogentisic acid (HGA) caused by homogentisate 1,2-dioxygenase (HGD) enzyme deficiency. The deposition of a dark, HGA-derived ochronotic pigment in cartilage and other connective tissues causes a severe and early-onset osteoarthropathy, due to ochronotic tissue being stiff and brittle...

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Literature Corpus work: f6c4d296-56fa-54b6-aa3c-744aa34ca9f1
DOI: 10.17638/03105640

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