Maple Syrup Urine Disease: About a Case

Abstract

Qualitative study of a clinical case, maple syrup urine disease (MAOJA), inborn error of metabolism of branched-chain amino acids with accumulation of these, resulting in severe neonatal encephalopathy, which, not being diagnosed, it leads to the appearance of permanent neurological sequelae and death. A case is presented, a female patient, with EOJA diagnosed in her lactating period with the aim of analyzing the clinical manifestations, diagnosis and therapeutic behavior. He presented a variable clinic, with suspicion of other pathologies. Due to the clinical worsening and the "sweet" smell in the urine, a neonatal screening was performed, showing a total of isoleucine and valine above normal values, which confirmed the diagnosis. The patient presented severe neurological sequelae, physical retardation of 98%. It is concluded that the clinical manifestations of (EOJA) in the first days of life are crucial for early diagnosis, allowing family counseling through genetic studies. One of the non-invasive treatments that gradually helps stop the symptomatic progression of these patients is a low-protein diet and a special formula.