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Home > Education > Books & Publications > Publications > Inborn Errors Of Metabolism.

Inborn Errors Of Metabolism.

Jeanmonod R, Jeanmonod D. Source StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018-.


Excerpt

Inborn errors of metabolism are a heterogeneous group of disorders that may be inherited or may occur as the result of spontaneous mutation. These diseases involve failure of the metabolic pathways involved in either the break-down or storage of carbohydrates, fatty acids, and proteins. Although any given inborn error of metabolism is very rare, taken as a group, inborn errors occur in 1 in 2500 births, making them quite common. They can present at any age, and therefore, a working knowledge of these diseases, their presentations, and their evaluation is critical for the emergency provider.

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