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Book

Inborn Errors of Metabolism

Rebecca Jeanmonod  1 , Edinen Asuka  2 , Donald Jeanmonod  1
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

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.

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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.

References

    1. Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H. The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics. J Inherit Metab Dis. 2020 Jan;43(1):25-35. - PubMed
    1. Marques EP, Wyse ATS. Creatine as a Neuroprotector: an Actor that Can Play Many Parts. Neurotox Res. 2019 Aug;36(2):411-423. - PubMed
    1. Guerrero RB, Kloke KM, Salazar D. Inborn Errors of Metabolism and the Gastrointestinal Tract. Gastroenterol Clin North Am. 2019 Jun;48(2):183-198. - PubMed
    1. 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
    1. Ferreira CR, Cassiman D, Blau N. Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases. Mol Genet Metab. 2019 Jun;127(2):117-121. - PMC - PubMed

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