Maple Syrup Urine Disease: A case report

Abstract

The maple syrup urine disease (MSUD) is an inborn error of the metabolism of autosomal recessive inheritance. It is caused by defective activity of the _-keto acids dehydrogenase enzyme complex; therefore, branched chain amino acids like valine, leucine and isoleucine cannot be fully catabolized.

A three month old infant is presented. The child had a history of frequent vomiting and refusal to feed since the first week of life. The child was treated as a cow milk protein allergy and grade IV gastroesophageal reflux with several changes of formula according to the diagnosis. Currently, she was admitted at the hospital with history of five days of cough, fever and approximately nine hours of respiratory distress. Three hours later the child presents tonic seizures and shock. She was then transferred tot he pediatric intensive care unit, and she was attached to mechanical ventilator. The patient presented ketonuria and persistent metabolic acidosis with elevated anion gap (17), which resolved in 48 hours. IRM showed important cortical atrophy. Elevated metabolites levels of branched chain amino acids were found; 2-OH isovaleric, 2-OH isicaproico, 2-keto- 3-methylvalerico, 2 ketoisocaproico, all of them consistent with EOJA and elevation of lactic acid and Alpha-ketoglutarate; that it could indicate defects in the E3 enzyme dehydrogenase subunit. Inborn errors of metabolism are most frequently diagnosed every day, and they should be suspected in children with frequent vomiting.

Acta Pediátrica Hondureña, Vol. 6, No. 1 Abril 2015 a Septiembre 2015: 423-429