Inborn Errors of Metabolism - PubMed (original) (raw)
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In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
2023 Jul 17.
Affiliations
- PMID: 29083820
- Bookshelf ID: NBK459183
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Inborn Errors of Metabolism
Rebecca Jeanmonod et al.
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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.
Copyright © 2025, StatPearls Publishing LLC.
Conflict of interest statement
Disclosure: Rebecca Jeanmonod declares no relevant financial relationships with ineligible companies.
Disclosure: Edinen Asuka declares no relevant financial relationships with ineligible companies.
Disclosure: Donald Jeanmonod declares no relevant financial relationships with ineligible companies.
Sections
- Continuing Education Activity
- Introduction
- Etiology
- Epidemiology
- Pathophysiology
- History and Physical
- Evaluation
- Treatment / Management
- Differential Diagnosis
- Enhancing Healthcare Team Outcomes
- Review Questions
- References
References
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- Canton M, Gall DL, Feillet F, Bonnemains C, Roy A. Neuropsychological Profile of Children with Early and Continuously Treated Phenylketonuria: Systematic Review and Future Approaches. J Int Neuropsychol Soc. 2019 Jul;25(6):624-643. - PubMed