Reporte de caso y revisión de literatura: Enfermedad de orina con olor a jarabe de arce

Background: The maple syrup urine disease is known for its smell, which is like honey from the maple tree or like "burned sugar". It is a hereditary disorder of branched–chain amino acidswith different phenotypic expressions. The acute period generates an accumulation of neurotoxins requiring early diagnosis and treatment due to neurological sequelae and fatal outcome.Clinical case: We present the case of a newborn at term pregnancy with an unremarkable story. She was admitted after six days of irritability, poor suction, subjective fever, and emesis. The patient had unfavorable evolution with ventilatory failure, neurological signs, and acidosis. Inborn error of metabolism was suspected, and initial treatment was established in consonance with the clinical suspicion. A report of an increase of branched–chain amino acids confirmed maple syrup urine disease.Conclusions: Presenting this case, we make a non–systematic review of the literature, including pathophysiology, diagnosis, and treatment guidelines, showing current evidence, for metabolic control, avoiding mortality, and significant neurological outcome.