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A "new" disorder of isoleucine catabolism
Lancet (London, England)
|December 11, 1971
Abstract:
A disorder of isoleucine catabolism was found in a child with intermittent metabolic acidosis. The block occurs at the stage of propionate synthesis, and two intermediates--alpha-methylacetoacetate and alpha-methyl-beta-hydroxybutyrate--accumulate. The condition is apparently inherited.