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Revista mexicana de pediatría
versão impressa ISSN 0035-0052
Resumo
SANCHEZ, Óscar et al. Neonatal sepsis with hyperammonemia? Early clinical diagnosis of a neonatal isovaleric acidemia. Rev. mex. pediatr. [online]. 2019, vol.86, n.5, pp.197-201. Epub 02-Out-2020. ISSN 0035-0052.
Introduction:
Isovaleric aciduria (IA) is an inborn error of metabolism within the group of organic acidemias (AO). It is secondary to isovaleryl-CoA dehydrogenase deficiency, and has a prevalence that is around one case per 100,000 live births. Neonatal onset IA is more severe than when the presentation is at older ages.
Case presentation:
We present the case of a male newborn in whom the diagnosis of IA was made, given the clinical picture of neurological condition, metabolic acidosis and hyperammonemia within the first week of life. Specialized dietary management was initiated and the patient evolved satisfactorily.
Conclusions:
Timely diagnosis of IA can prevent sequelae and fatal outcomes, when early treatment is offered.
Palavras-chave : Isovaleric acidemia; organic acidemia; neonatal hyperammonemia; innate error of metabolism; metabolic acidosis.
