Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.
An increasing number of reports indicate that patients with some inherited metabolic diseases may have symptoms resembling those of Reye syndrome. We describe two siblings who developed a Reye-like syndrome at ages 16 and 18 months, respectively, after a viral illness and salicylate therapy. Both had fasting hypoglycemia and hypoketonemia. At the time of the acute episode and after ingestion of a medium-chain triglyceride load, one of them excreted large amounts of abnormal metabolites derived from the omega- and (omega-1)-oxidation of medium-chain fatty acids. Medium-chain acyl-CoA dehydrogenase activity was lower than 20% of control values in fibroblasts from both patients. This enzyme defect should be considered in children with a Reye-like syndrome with these distinctive manifestations.
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency / Q000235:genetics* / Q000652:urine; D001786:Blood Glucose / Q000378:metabolism; D002210:Caprylates / Q000097:blood; D002331:Carnitine / Q000378:metabolism; D005230:Fatty Acids, Nonesterified / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D012202:Reye Syndrome / Q000201:enzymology / Q000235:genetics* / Q000473:pathology
D001786:Blood Glucose; D002210:Caprylates; D005230:Fatty Acids, Nonesterified; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; C031492:octanoic acid; D002331:Carnitine