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Review
. 2021 Nov 19;11(11):2148.
doi: 10.3390/diagnostics11112148.

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Isabel Solares  1   2 , Carlos Heredia-Mena  1 , Francisco Javier Castelbón  1   2 , Daniel Jericó  3   4 , Karol Marcela Córdoba  3   4 , Antonio Fontanellas  3   4   5 , Rafael Enríquez de Salamanca  1   2 , Montserrat Morales-Conejo  1   2   6   7
Affiliations
Review

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Isabel Solares et al. Diagnostics (Basel). .

Abstract

Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.

Keywords: acute porphyrias; inborn errors of metabolism; mitochondrial disease; urea cycle disorders.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
How to address a suspected inborn error of metabolism error in the emergency department.
Figure 2
Figure 2
Inborn errors of metabolism nosological classification.
Figure 3
Figure 3
IEM classification according to symptoms.
Figure 4
Figure 4
Recommendation of an hyperammonemia approach in the emergency department.
Figure 5
Figure 5
Recommended approach for the acute porphyria attack in the emergency department.
See this image and copyright information in PMC

References

    1. Kamboj M. Clinical approach to the diagnoses of inborn errors of metabolism. Pediatr. Clin. N. Am. 2008;55:1113–1127. doi: 10.1016/j.pcl.2008.07.004. - DOI - PubMed
    1. Sanderson S., Green A., Preece M.A., Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Arch. Dis. Child. 2006;91:896–899. doi: 10.1136/adc.2005.091637. - DOI - PMC - PubMed
    1. Pérez-López J., Ceberio-Hualde L., Morillo J.S.G., Grau-Junyent J.M., Ameijeiras H., López-Rodríguez M., Morales-Conejo M., Mateos J.J.N., Azuara L.J.A.E., Campistol J., et al. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Med. Clínica. 2016;147:506.e1–506.e7. doi: 10.1016/j.medcli.2016.09.018. - DOI - PubMed
    1. Cambra Conejero A., Martínez Figueras L., Ortiz Temprado A., Blanco Soto P., Martín Rivada Á., Palomino Pérez L., Elvira C.V., Consuelo P.G., Pilar Q.F., Elena M.-H., et al. Newborn Screening Program in the Community of Madrid: Evaluation of positive cases. Rev. Esp. Salud Publica. 2020;94:e202012185. - PMC - PubMed
    1. Kruszka P., Regier D. Inborn Errors of Metabolism: From Preconception to Adulthood. Am. Fam. Physician. 2019;99:25–32. - PubMed

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