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IEMDrugs Medicine

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Inborn errors of metabolism (IEM) are defined as monogenic diseases resulting in deficient activity in a single enzyme in a pathway of intermediary metabolism. Over 500 human diseases due to inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The treatment of these disorders has seen significant advances over the past decade.

This program intends to summarize the dosages of medications used in the treatment of IEM as supported by the best level of evidence that currently exists in the literature. The authors hope that it will serve as a quick and easy access for a comprehensive list of medications used in this important clinical field.

However, the reader of this program should be aware about several limitations and gaps in this review and caution should be practiced when accessing the information mentioned in it. These limitations include that knowledge related to the field of IEM is continuously and dynamically changing. It may not be long before this review becomes outdated. Therefore, the authors hope that the experts over the world would help them in updating the dosages and level of evidence exist in this program by contacting us with their valuable comments at dralfadhelm@gmail.com