Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice

Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of...

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Bibliographic Details
Published in:JIMD Rep
Main Authors: Keenan, Craig M, Preston, Andrew J, Sutherland, Hazel, Wilson, Peter J, Psarelli, Eftychia E, Cox, Trevor F, Ranganath, Lakshminarayan R, Jarvis, Jonathan C, Gallagher, James A
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4582025/
https://ncbi.nlm.nih.gov/pubmed/25940034
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_437
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