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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Huvudupphov:	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
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	KeAi Communications Co., Ltd. 2022-07-01
Serie:	Genes and Diseases
Ämnen:	Alkaptonuria Biotransformation Metabolism Metabolomics Mice
Länkar:	http://www.sciencedirect.com/science/article/pii/S2352304221000271
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