Glutaric aciduria; Presence of glutaconic and β-hydroxyglutaric acids in urine
1975; Academic Press; Volume: 12; Issue: 4 Linguagem: Inglês
10.1016/0006-2944(75)90071-x
ISSN1557-7996
AutoresOddvar Stokke, Stephen I. Goodman, John A. Thompson, Barbara S. Miles,
Tópico(s)Amino Acid Enzymes and Metabolism
ResumoAbstract The urine from two siblings with glutaric aciduria has been found to contain abnormally high amounts of β-hydroxyglutaric and glutaconic acids. This strongly suggests that the enzymic block in these patients, which previously has been shown to exist in one of the two steps between glutaryl-CoA and glutaconyl-CoA, is in the decarboxylation of glutaconyl-CoA to crotonyl-CoA. Furthermore, the presence of these two metabolites in urine makes it likely that the postulate of glutaryl-CoA dehydrogenase and glutaconyl-CoA decarboxylase in mammals being one enzyme is not correct.
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