title: [Hyperuricemia as the main symptom of medium-chain acyl-Co-A dehydrogenase deficiency].
abstract: Between 1991 and 1996 three cases of MCAD-deficiency (medium-chain-acyl-Co-A dehydrogenase deficiency) were diagnosed in the Vestische Kinderklinik. All patients showed hypoketotic hypoglycaemia with hyperuricaemia. In the group of hypoketotic hypoglycaemia without lactat acidosis MCAD-deficiency is the only metabolic disease presenting regularly with hyperuricaemia. Thus, hyperuricaemia in a patient with hypoketotic hypoglycaemia is a strong indicator for MCAD-deficiency. Measurement of uric acid is easily available before sophisticated metabolic analysis are completed.
authors.affiliation: Vestische Kinderklinik Datteln, Universität Witten/Herdecke.
authors.forename: T
authors.initials: T
authors.lastname: Reinehr
authors.forename: G
authors.initials: G
authors.lastname: Bürk
authors.forename: B
authors.initials: B
authors.lastname: Dietz
authors.forename: B
authors.initials: B
authors.lastname: Schlüter
authors.forename: W
authors.initials: W
authors.lastname: Andler
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D026261:Diazepam Binding Inhibitor; D044943:Fatty Acid Desaturases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D005508:Food Deprivation / Q000502:physiology; D006801:Humans; D007003:Hypoglycemia / Q000097:blood / Q000235:genetics; D007223:Infant; D007657:Ketone Bodies / Q000097:blood; D008297:Male; D017354:Point Mutation; D014527:Uric Acid / Q000097:blood*
chemical_list: D002352:Carrier Proteins; D026261:Diazepam Binding Inhibitor; D007657:Ketone Bodies; D014527:Uric Acid; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase