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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Bibliografiske detaljer
Udgivet i:J Inherit Metab Dis
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley & Sons, Inc. 2020
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Original Articles
Online adgang: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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