Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS

摘要: Abstract Background: Influenza-associated encephalopathy (IAE) occurs in childhood often with a serious clinical course and fatal outcomes. We screened children IAE using GC/MS to determine whether they have metabolic disorders such as organic acidemias. Methods: Urine samples from 70 Japanese were analyzed between 2001 2005 solvent extraction direct drying methods. Results: Apparent 6 of tested included vitamin B12-responsive methylmalonic acidemia (MMA; n =1), fructose-1,6-diphosphatase (FDPase) deficiency ( =1) non-ketotic dicarboxylic aciduria =4) suggesting fatty acid oxidation. One child had an FDPase deficiency, for which glycerol infusion was contraindicated. Valproic metabolites detected 10 urinary excretion increased 22 them after treatment. Discussion: Our results showed that inborn errors metabolism (IEM), acidemias, are detectable among IAE. Patients MMA hypoglycemia, hyperammonemia acute lactic acidemia. Importantly, detection is contraindicated suggests careful selection treatment strategy "acute encephalopathy". valproic its at rate 14%, considerably higher than control population. Thus, convulsive might be risk factor associated