 Hello, my name is Agnetta Fossbuck, I'm a PhD student at the Department of Biomedicine at the University of Bergen in Norway. I'm going to talk about a recent article in Human Mutation entitled Functional Studies of Tyrosine Hydroxylase Miscense Variants, Reveal Distinct Patterns of Molecular Defects in Doporesponsive Destonia. All co-authors of this study are members of the K. G. Jepsen Center for Research on Neuro-Sachiatric Disorders, headed by Jörn Håvik. Congenital Tyrosine Hydroxylase Deficiency is found in a subgroup of patients with Doporesponsive Destonia and approximately 50 disease-related mutations in the tyrosine hydroxylase gene is reported. In our study, we collected clinical and biochemical data reported for patients with tyrosine hydroxylase deficiency from the literature. We also generated mutated forms of tyrosine hydroxylase in order to determine the causes of impaired enzyme activity. In this representation of the tyrosine hydroxylase enzyme, you can see the mutations chosen for this study marked in red. We examined the characteristics of mutated forms of tyrosine hydroxylase and compared to the wild type enzyme. We found great variants of the impact of mutations with regards to solubility, thermal stability and kinetic properties. Please read the article for further information on the results. Our study presents the most exhaustive investigation of tyrosine hydroxylase mutations to date and our findings will be of great importance in developing new specific and individualized treatment for patients with tyrosine hydroxylase deficiency. Please feel welcome to contact us if you have any comments or questions regarding this work. Thank you for your attention and happy reading.