[Acute encephalopathy and recurrent hepatic steatosis with normal long and medium chain fatty acyl-CoA-dehydrogenase activity].
A boy suffering from recurrent episodes of acute encephalopathy and hepatic steatosis died at 40 months of age. The symptoms started when he was 13 months old and he appeared completely normal in the intervals. Pertinent biologic findings were as follows: slight labile hypoglycemia and hyperammonemia having no direct correlation with neurologic derangement, no elevation of ammonia levels in loading tests, complete failure to generate ketones and the absence of organic aciduria during a fast, normal plasma carnitine levels and normal activity of long and medium chain acyl-CoA-dehydrogenase in skin fibroblasts. Pertinent autopsy findings were marked steatosis of liver and renal tubular cells with many foamy histiocytes in bone marrow. An error in metabolic pathways, particularly a derangement in lipid metabolism, was considered.
D000208:Acute Disease; D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000378:metabolism*; D001927:Brain Diseases / Q000201:enzymology*; D003937:Diagnosis, Differential; D005234:Fatty Liver / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D012202:Reye Syndrome / Q000175:diagnosis
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase
Encéphalopathie aiguë et stéatose hépatique récurrentes avec activité normale de l'acyl-CoA-déhydrogénase des acides gras à chaîne longue et moyenne.