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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Pubblicato in:JIMD Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2015
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Article
Accesso online: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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