Article

Consequences and prevention of elevated circulating tyrosine during nitisinone therapy in alkaptonuria

2018-01-01

Abstract excerpt

Alkaptonuria (AKU) is an ultra-rare, autosomal recessive disorder of tyrosine catabolism due to mutations within the homogentisate 1,2-dioxygenase (HGD) gene. The resulting enzyme deficiency leads to accumulation of homogentisic acid (HGA) and deposition of melanin-like pigment polymers in the connective tissues of the body in a process called ochronosis. This leads to debilitating early onset osteoarthropathy, re...

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Literature Corpus work: 224ffb5e-7083-50c3-aa87-1b505215d6ca
DOI: 10.24377/ljmu.t.00008867

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