Maple Syrup Urine Disease: Metabolic Disorders and Limitations in Honduras

Abstract

Background: Maple Syrup Urine Disease is an inborn error of metabolism that is caused by the deficiency of branched- chain alpha-ketoacid dehydrogenase amino acids, the accumulation of which causes severe neonatal encephalopathy and, if not treated early, would lead to the appearance of Permanent neurological sequelae until death. Case Presentation: Newborn female gender, eutocic delivery, spontaneous breathing, vigorous crying and good muscle tone, breastfeeding. Mother with a background of 2 children death in neonatal period. Patients present at 7 days, with poor suction, vomiting, hypoactivity and fever, findings on physical examination: hypoactive, incomplete Moro reflex, weak and constant crying, movements in upper extremities that simulate “boxing” associated with hypertonia, and pedaling In the lower limbs, a tense and slightly bulging fontanelle, irregular breathing and bradypnea, thus requiring endotracheal intubation, mechanical ventilation and management in NICU, EEG without evidence of convulsive electri- cal activity but is suggested to investigate metabolic encephalopathy. Clinical data and family history Neonatal screening is requested, thiamine and levocarnitine are initiated on suspicion of an inborn error of metabolism. At 23 days of life are received results that reveal elevated levels of specific amino acids of MSUD and genetic analysis confirmed. Discussion: MSUP is a rare entity in the world, Honduras is a country that does not have methods of neonatal screening, it is important that the doctor suspects early this type of disease and make a timely diagnosis.