Coma en adulto joven de causa inhabitual

  1. Aranda-Calleja, María Ángeles 1
  2. Paraíso-Cuevas, Vicente 2
  3. Morales-Conejo, Montserrat 3
  4. Castro-Fernández, Bernardo Andy 1
  5. Toldos-González, Óscar 4
  1. 1 Servicio de Neurología, Hospital del Henares, Coslada, Madrid, España
  2. 2 Servicio de Nefrología, Hospital del Henares, Coslada, Madrid, España
  3. 3 Servicio de Medicina Interna, Hospital 12 de Octubre, Madrid. National Reference Center for Congenital Errors of Metabolism (CSUR) an European Reference Center for Inherited Metabolic Disease (MetabERN). CIBERER. Spanish Network for Biomedical Research in Rare Diseases. Madrid, ES
  4. 4 Servicio de Anatomía Patológica, Hospital 12 de Octubre.Madrid, España
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Journal:
Revista Española de Casos Clínicos en Medicina Interna (RECCMI)

ISSN: 2530-0792

Year of publication: 2023

Issue Title: Revista Española de Casos Clínicos en Medicina Interna

Volume: 8

Issue: 1

Pages: 35-38

Type: Article

DOI: 10.32818/RECCMI.A8N1A12 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Revista Española de Casos Clínicos en Medicina Interna (RECCMI)

Abstract

Nowadays, we count on the heel prick test in newborns to diagnose main congenital disorders of metabolism, which include the 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and other pathologies. This case involved a young adult with a serious clinical presentation that entailed a diagnostic challenge because there was no previous identification of this disease nor a family health history that would indicate so. The collaboration of different specialists and the exhaustive study with various complementary tests led us to the diagnosis of this rare disease, the 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Bibliographic References

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