[Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency].
The medium chain acyl-CoA deshydrogenase defect: a new inherited metabolic disorder. This enzymatic defect blocks the catabolism of non esterified fatty acids during fasting. Thus, this disease is revealed by a coma due to hypoglycemia in a young child; the presence of dicarboxylic aciduria in such a situation is the main evidence for this diagnosis. Finally, the enzymatic studies performed on skin fibroblasts show a defect in medium chain acyl-CoA deshydrogenase. When a child is investigated away from a coma episode, the ketotic diet induces dicarboxylic aciduria but must be performed in an intensive care unit for its dangers.
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D002331:Carnitine / Q000172:deficiency; D002478:Cells, Cultured; D003128:Coma / Q000209:etiology; D003937:Diagnosis, Differential; D003998:Dicarboxylic Acids / Q000652:urine; D004041:Dietary Fats / Q000008:administration & dosage; D005215:Fasting / Q000009:adverse effects; D005230:Fatty Acids, Nonesterified / Q000097:blood; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D007657:Ketone Bodies / Q000097:blood; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D012202:Reye Syndrome / Q000175:diagnosis
D003998:Dicarboxylic Acids; D004041:Dietary Fats; D005230:Fatty Acids, Nonesterified; D007657:Ketone Bodies; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine
Le déficit en medium chain acyl CoA deshydrogénase. A propos d'un cas avec mise en évidence du déficit enzymatique.