Sánchez Ó, Cabarcas L, Espinosa E, Guevara JM, Echeverri-Peña OY

Language: Spanish
References: 15
Page: 197-201
PDF size: 249.81 Kb.

ABSTRACT

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.

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