Article
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.
American journal of human genetics - 1 Nov 2000
Andresen B S, Christensen E, Corydon T J, Bross P, Pilgaard B, Wanders R J, Ruiter J P, Simonsen H, Winter V, Knudsen I, Schroeder L D, Gregersen N, Skovby F
Abstract excerpt
Acyl-CoA dehydrogenase (ACAD) defects in isoleucine and valine catabolism have been proposed in clinically diverse patients with an abnormal pattern of metabolites in their urine, but they have not been proved enzymatically or genetically, and it is unknown whether one or two ACADs are involved. We investigated a patient with isolated 2-methylbutyrylglycinuria, suggestive of a defect in isoleucine catabolism....
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