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Molecular Aspects of the FAH Mutations Involved in HT1 Disease

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Hereditary Tyrosinemia

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 959))

Abstract

Hereditary tyrosinemia type 1 (HT1) is caused by the lack of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway. Up to now, around 100 mutations in the FAH gene have been associated with HT1, and despite many efforts, no clear correlation between genotype and clinical phenotype has been reported. At first, it seems that any mutation in the gene results in HT1. However, placing these mutations in their molecular context allows a better understanding of their possible effects. This chapter presents a closer look at the FAH gene and its corresponding protein in addition to provide a complete record of all the reported mutations causing HT1.

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Acknowledgements

The work on HT1 in RMT’s laboratory is supported by grants from the Canadian Institutes of Health Research (CIHR) and Fondation du Grand Défi Pierre Lavoie.

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  1. Laboratoire de génétique cellulaire et développementale, Département de biologie moléculaire, biochimie médicale et pathologie, Faculté de médecine, Institut de biologie intégrative et des systèmes (IBIS) and PROTEO, Université Laval, 1030 avenue de la médecine, Québec, QC, G1V 0A6, Canada

    Geneviève Morrow, Francesca Angileri & Robert M. Tanguay

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  1. Geneviève Morrow
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  2. Francesca Angileri
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Correspondence to Robert M. Tanguay .

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  1. Department of Molecular Biology, Medical Biochemistry and Pathology, Medical School, Université Laval, Québec, Québec, Canada

    Robert M. Tanguay

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Morrow, G., Angileri, F., Tanguay, R.M. (2017). Molecular Aspects of the FAH Mutations Involved in HT1 Disease. In: Tanguay, R. (eds) Hereditary Tyrosinemia. Advances in Experimental Medicine and Biology, vol 959. Springer, Cham. https://doi.org/10.1007/978-3-319-55780-9_3

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