Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria

Alkaptonuria (AKU) is caused by homogentisate 1,2‐dioxygenase deficiency that leads to homogentisic acid (HGA) accumulation, ochronosis and severe osteoarthropathy. Recently, nitisinone treatment, which blocks HGA formation, has been effective in AKU patients. However, a consequence of nitisinone is...

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書誌詳細
出版年:J Inherit Metab Dis
主要な著者: Hughes, Juliette H., Wilson, Peter J. M., Sutherland, Hazel, Judd, Shirley, Hughes, Andrew T., Milan, Anna M., Jarvis, Jonathan C., Bou‐Gharios, George, Ranganath, Lakshminarayan R., Gallagher, James A.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley & Sons, Inc. 2020
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7079096/
https://ncbi.nlm.nih.gov/pubmed/31503358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12172
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