K. Gibson, C. Lee, R. Wappner
May 1, 1992
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Influential Citations
13
Citations
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Journal
Journal of Inherited Metabolic Disease
Abstract
Patients presenting with increased urinary excretion of combined 3-methylglutaconic (3-MGC) and 3-methylglutaric (3-MGR) acids represent diverse clinical syndromes. Type I syndrome manifests retardation of speech development and deficient activity of 3-methylglutaconyl-coenzyme A (3-MG-CoA) hydratase in extracts of cultured cells (Narisawa et al 1986). Type II syndrome is that of dilated cardiomyopathy, growth retardation and neutropenia (Kelley et al 1989)