Figure 1.
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Voie catabolique de la tyrosine. La tyrosinémie héréditaire de type 1 est due à un blocage de la voie catabolique de la tyrosine au niveau de l’enzyme fumarylacétoacétate hydrolase (FAH). HGD: acide homogentisique dioxygénase, HPD: 4-hydroxyphénylpyruvate dioxygénase, MAAI: maléylacétoacétate isomérase, NTBC: 2- (2-nitro-4-trifluorométhylbenzoyl)-1,3-cyclohexanedione, TAT: tyrosine aminotransférase.
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