Abstract
Different therapeutic principles can improve clinical outcome in patients suffering from inborn errors of metabolism (IEM). IEMs are inherited disorders which are based on a primary enzyme defect or deficiency of a cellular transporter. Substrate reduction by diet (exogenous substrate), pharmacological substrate reduction (endogenous substrate), supplementation of a missing cofactor/vitamin, activation of alternative pathways for the elimination of toxic compounds, augmentation of enzyme activity by chaperones and enzyme replacement therapy (in selected diseases like lysosomal storage diseases) are therapeutic options for alimentary and pharmacological treatment in IEM.In this chapter we will discuss options for pharmacological and/or dietary therapy in selected prototype IEM.
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Das, A.M., Illsinger, S. (2018). Pharmacological Therapy in Inborn Errors of Metabolism. In: Hock, F., Gralinski, M. (eds) Drug Discovery and Evaluation: Methods in Clinical Pharmacology. Springer, Cham. https://doi.org/10.1007/978-3-319-56637-5_62-1
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