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

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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Dades bibliogràfiques
Autors principals: Brendan P. Norman, Andrew S. Davison, Juliette H. Hughes, Hazel Sutherland, Peter JM. Wilson, Neil G. Berry, Andrew T. Hughes, Anna M. Milan, Jonathan C. Jarvis, Norman B. Roberts, Lakshminarayan R. Ranganath, George Bou-Gharios, James A. Gallagher
Format: Article
Idioma:English
Publicat: KeAi Communications Co., Ltd. 2022-07-01
Col·lecció:Genes and Diseases
Matèries:
Alkaptonuria
Biotransformation
Metabolism
Metabolomics
Mice
Accés en línia:http://www.sciencedirect.com/science/article/pii/S2352304221000271

Internet

http://www.sciencedirect.com/science/article/pii/S2352304221000271

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