[Hyperuricemia as the main symptom of medium-chain acyl-Co-A dehydrogenase deficiency].
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.
Reinehr
T
T
Vestische Kinderklinik Datteln, Universität Witten/Herdecke.
Bürk
G
G
Dietz
B
B
Schlüter
B
B
Andler
W
W
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*
D002352:Carrier Proteins; D026261:Diazepam Binding Inhibitor; D007657:Ketone Bodies; D014527:Uric Acid; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase