Metabolomic studies in the inborn error of metabolism alkaptonuria reveal new biotransformations in tyrosine metabolism

Alkaptonuria (AKU) is an inherited disorder of tyrosine metabolism caused by lack of active enzyme homogentisate 1,2-dioxygenase (HGD). The primary consequence of HGD deficiency is increased circulating homogentisic acid (HGA), the main agent in the pathology of AKU disease. Here we report the first...

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Detalles Bibliográficos
Autores principales: Norman, Brendan P., Davison, Andrew S., Hughes, Juliette H., Sutherland, Hazel, Wilson, Peter JM., Berry, Neil G., Hughes, Andrew T., Milan, Anna M., Jarvis, Jonathan C., Roberts, Norman B., Ranganath, Lakshminarayan R., Bou-Gharios, George, Gallagher, James A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Chongqing Medical University 2021
Materias:
Full Length Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170613/
https://www.ncbi.nlm.nih.gov/pubmed/35685462
http://dx.doi.org/10.1016/j.gendis.2021.02.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9170613/
https://www.ncbi.nlm.nih.gov/pubmed/35685462
http://dx.doi.org/10.1016/j.gendis.2021.02.007

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