Unusual cause of coma in a young adult
DOI:
https://doi.org/10.32818/reccmi.a8n1a12Keywords:
coma, fanconi syndrome, 3-Hydroxy-3-methylglutaryl-CoA lyase, inborn errors of metabolismAbstract
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.
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Copyright (c) 2023 María Ángeles Aranda-Calleja, Vicente Paraíso-Cuevas, Montserrat Morales-Conejo , Bernardo Andy Castro-Fernández, Óscar Toldos-González
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